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... and osteopenia were revealed in the  homozygous 
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabé; Wolf, Eckhard; Aigner, Bernhard
mutant mice which were also described in ...
... desmin and in muscles of hetero- and  homozygous 
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Winter, Lilli; Wittig, Ilka; Peeva, Viktoriya; Eggers, Britta; Heidler, Juliana; Chevessier, Frederic; Kley, Rudolf A.; Barkovits, Katalin; Strecker, Valentina; Berwanger, Carolin; Herrmann, Harald; Marcus, Katrin; Kornblum, Cornelia; Kunz, Wolfram S.; Schröder, Rolf; Clemen, Christoph S.
knock-in mice carrying the R349P desmin ...
... inflammatory disease. We expected to find  homozygous 
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
De Benedetti, F.; Anton, J.; Gattorno, M.; Lachmann, H.; Kone-Paut, I.; Ozen, S.; Frenkel, J.; Simon, A.; Zeft, A.; Ben-Chetrit, E.; Hoffman, H. M.; Joubert, Y.; Lheritier, K.; Speziale, A.; Guido, J.; Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Tommasini, Alberto; Martino, Silvana; Gallizzi, Romina; Salis, Annalisa; Schena, Francesca; Caroli, Francesco; Martini, Alberto; Damonte, Gianluca; Ceccherini, Isabella; Gattorno, Marco; Frémond, Marie-Louise; Uggenti, Carolina; Van Eyck, Lien; Melki, Isabelle; Duffy, Darragh; Bondet, Vincent; Rose, Yoann; Neven, Bénédicte; Crow, Yanick; Rodero, Mathieu P.; Kusche, Yvonne; Roth, Johannes; Barczyk-Kahlert, Katarzyna; Ferrara, Giovanna; Chiocchetti, Annalisa; Polizzi, Silvio; Vuch, Josef; Vozzi, Diego; Mondino, Anna; Valencic, Erica; Pastore, Serena; Taddio, Andrea; Faletra, Flavio; Dianzani, Umberto; Ramenghi, Ugo; Tommasini, Alberto; Zhou, Qing; Yu, Xiaomin; Demirkaya, Erkan; Deuitch, Natalie; Stone, Deborah; Tsai, Wanxia; Ombrello, Amanda; Romeo, Tina; Remmers, Elaine F.; Chae, JaeJin; Gadina, Massimo; Welch, Steven; Ozen, Seza; Topaloglu, Rezan; Abinun, Mario; Kastner, Daniel L.; Aksentijevich, Ivona; Vairo, Donatella; Ferraro, Rosalba Monica; Zani, Giulia; Galli, Jessica; De Simone, Micaela; Cattalini, Marco; Fazzi, Elisa; Giliani, Silvia; Omoyinmi, Ebun; Standing, Ariane; Rowczenio, Dorota; Keylock, Annette; Gomes, Sonia Melo; Price-Kuehne, Fiona; Nanthapisal, Sira; Murphy, Claire; Cullup, Thomas; Jenkins, Lucy; Gilmour, Kimberly; Eleftheriou, Despina; Lachmann, Helen; Hawkins, Philip; Klein, Nigel; Brogan, Paul; Dhanrajani, Anita; Chan, Mercedes; Pau, Stephanie; Ellsworth, Janet; Guzman, Jaime; Aeschlimann, Florence A.; Twilt, Marinka; Eng, Simon W.; Sheikh, Shehla; Laxer, Ronald M.; Hebert, Diane; Noone, Damien; Pagnoux, Christian; Benseler, Susanne M.; Yeung, Rae S.; Kessel, Christoph; Lippitz, Katrin; Weinhage, Toni; Hinze, Claas; Wittkowski, Helmut; Holzinger, Dirk; Grün, Niklas; Föll, Dirk; Van Dijkhuizen, Pieter; Del Chierico, Federica; Malattia, Clara; Russo, Alessandra; Marafon, Denise Pires; ter Haar, Nienke M.; Magni-Manzoni, Silvia; Vastert, Sebastiaan J.; Dallapiccola, Bruno; Prakken, Berent; Martini, Alberto; De Benedetti, Fabrizio; Putignani, Lorenza; Fidanci, Berna Eren; Barut, Kenan; Arıcı, Serap; Simsek, Dogan; Cakan, Mustafa; Batu, Ezgi D.; Şahin, Sezgin; Kısaarslan, Ayşenur; Yilmaz, Ebru; Basaran, Özge; Demir, Ferhat; Ozturk, Kubra; Gunduz, Zübeyde; Sozeri, Betül; Makay, Balahan; Ayaz, Nuray; Yavascan, Onder; Aydog, Ozlem; Bilginer, Yelda; Ekinci, Zelal; Yıldız, Dilek; Gök, Faysal; Erguven, Muferret; Unsal, Erbil; Kasapcopur, Ozgur; Ozen, Seza; Demirkaya, Erkan; Sönmez, Hafize E.; Batu, Ezgi D.; Sözeri, Betül; Butbul, Yonatan; Bilginer, Yelda; Özen, Seza; Bracaglia, Claudia; Prencipe, Giusi; Pardeo, Manuela; Lapeyre, Geneviève; Marasco, Emiliano; Insalaco, Antonella; Ferlin, Walter; Nelson, Robert; de Min, Cristina; De Benedetti, Fabrizio; Ruperto, N.; Brunner, H. I.; Quartier, P.; Constantin, T.; Alexeeva, E.; Kone-Paut, I.; Marzan, K.; Wulffraat, N.; Schneider, R.; Padeh, S.; Chasnyk, V.; Wouters, C.; Kuemmerle-Deschner, J. B.; Kallinich, T.; Lauwerys, B.; Haddad, E.; Nasonov, E.; Trachana, M.; Vougiouka, O.; Leon, K.; Vritzali, E.; Lheritier, K.; Martini, A.; Lovell, D.; Schena, Francesca; Volpi, Stefano; Caorsi, Roberta; Penco, Federica; Pastorino, Claudia; Kalli, Francesca; Omenetti, Alessia; Chiesa, Sabrina; Bertoni, Arinna; Picco, Paolo; Filaci, Gilberto; Aksentijevich, Ivona; Grossi, Alice; Ceccherini, Isabella; Martini, Alberto; Traggiai, Elisabetta; Gattorno, Marco; Melki, Isabelle; Rose, Yoann; Uggenti, Carolina; Fremond, Marie-Louise; Van Eyck, Lien; Kitabayashi, Naoki; Gattorno, Marco; Volpi, Stefano; Sacco, Olivero; Meyts, Isabelle; Morren, Marie-Anne; Wouters, Carine; Legius, Eric; Callebaut, Isabelle; Bodemer, Christine; Rieux-Laucat, Frederic; Rodero, Mathieu; Crow, Yanick; Frémond, Marie-Louise; Rodero, Mathieu P.; Jeremiah, Nadia; Belot, Alexandre; Jeziorski, Eric; Duffy, Darragh; Bessis, Didier; Cros, Guilhem; Rice, Gillian I.; Charbit, Bruno; Hulin, Anne; Khoudour, Nihel; Caballero, Consuelo Modesto; Bodemer, Christine; Fabre, Monique; Berteloot, Laureline; Le Bourgeois, Muriel; Reix, Philippe; Walzer, Thierry; Moshous, Despina; Blanche, Stéphane; Fischer, Alain; Bader-Meunier, Brigitte; Rieux-Laucat, Frédéric; Crow, Yanick; Neven, Bénédicte; Annink, K.; ter Haar, N.; Al-Mayouf, S.; Amaryan, G.; Anton, J.; Barron, K.; Benseler, S.; Brogan, P.; Cantarini, L.; Cattalini, M.; Cochino, A.; De Benedetti, F.; Dedeoglu, F.; De Jesus, A.; Dellacasa, O.; Demirkaya, E.; Dolezalova, P.; Durrant, K.; Fabio, G.; Gallizzi, R.; Goldbach-Mansky, R.; Hachulla, E.; Hentgen, V.; Herlin, T.; Hofer, M.; Hoffman, H.; Insalaco, A.; Jansson, A.; Kallinich, T.; Koné-Paut, I.; Kozlova, A.; Kuemmerle-Deschner, J.; Lachmann, H.; Laxer, R.; Martini, A.; Nielsen, S.; Nikishina, I.; Ombrello, A.; Ozen, S.; Papadopoulou-Alataki, E.; Quartier, P.; Ravelli, A.; Rigante, D.; Russo, R.; Simon, A.; Trachana, M.; Uziel, Y.; Gattorno, M.; Frenkel, J.; ter Haar, Nienke; Jeyaratnam, Jerold; Lachmann, Helen; Simon, Anna; Brogan, Paul; Doglio, Matteo; Cattalini, Marco; Anton, Jordi; Modesto, Consuelo; Quartier, Pierre; Hoppenreijs, Esther; Martino, Silvana; Insalaco, Antonella; Cantarini, Luca; Lepore, Loredana; Alessio, Maria; Penades, Inmaculada Calvo; Boros, Christina; Consolini, Rita; Rigante, Donato; Russo, Ricardo; Schmid, Jana Pachlopnik; Lane, Thirusha; Martini, Alberto; Ruperto, Nicolino; Frenkel, Joost; Gattorno, Marco; Passarelli, Chiara; Pisaneschi, Elisa; Messia, Virginia; Pardeo, Manuela; Novelli, Antonio; Debenedetti, Fabrizio; Insalaco, Antonella; Brogan, P. A.; Hofer, M.; Kuemmerle-Deschner, J. B.; Lauwerys, B.; Speziale, A.; Wei, X.; Laxer, R.; Insalaco, Antonella; Marafon, Denise Pires; Finetti, Martina; Pardeo, Manuela; Martino, Silvana; Cattalini, Marco; Alessio, Maria; Orlando, Francesca; Taddio, Andrea; Pastore, Serena; Cortis, Elisabetta; Miniaci, Angela; Ruperto, Nicola; Martini, Alberto; De Benedetti, Fabrizio; Gattorno, Marco; Eijkelboom, Charlotte; ter Haar, Nienke; Cantarini, Luca; Finetti, Martina; Brogan, Paul; Dolezalova, Pavla; Koné-Paut, Isabelle; Insalaco, Antonella; Jelusic-Drazic, Marija; Bezrodnik, Liliana; Pinedo, Mari Carmen; Stanevicha, Valda; van Gijn, Marielle; Federici, Silvia; Ruperto, Nicolino; Frenkel, Joost; Gattorno, Marco; Girschick, Hermann; Finetti, Martina; Orlando, Francesca; Insalaco, Antonella; Ganser, Gerd; Nielsen, Susan; Herlin, Troels; Koné-Paut, Isabelle; Martino, Silvana; Cattalini, Marco; Anton, Jordi; Al-Mayouf, Sulaiman Mohammed; Hofer, Michael; Quartier, Pierre; Boros, Christina; Kuemmerle-Deschner, Jasmin; Schalm, Susanne; Alessio, Maria; Ruperto, Nicolino; Martini, Alberto; Jansson, Annette; Gattorno, Marco; Finetti, Martina; Marchi, Marta; Marini, Chiara; Doglio, Matteo; Malattia, Clara; Ravelli, Angelo; Martini, Alberto; Garaventa, Alberto; Gattorno, Marco; Bertoni, Arinna; Carta, Sonia; Balza, Enrica; Castellani, Patrizia; Pellecchia, Caterina; Penco, Federica; Schena, Francesca; Borghini, Silvia; Trotta, Maria Libera; Pastorino, Claudia; Ceccherini, Isabella; Martini, Alberto; Gattorno, Marco; Rubartelli, Anna; Chiesa, Sabrina; Guzman, Jaime; Henrey, Andrew; Loughin, Thomas; Berard, Roberta; Shiff, Natalie; Jurencak, Roman; Benseler, Susanne; Tucker, Lori; Papadopoulou, Charalampia; Hong, Ying; Krol, Petra; Ioannou, Yiannis; Pilkington, Clarissa; Chaplin, Hema; Simou, Stephania; Charakida, Marietta; Wedderburn, Lucy; Brogan, Paul; Eleftheriou, Despina; Spiegel, Lynn R.; Kohut, Sara Ahola; Stinson, Jennifer; Forgeron, Paula; Kaufman, Miriam; Luca, Nadia; Amaria, Khush; Bell, Mary; Swart, J; Boris, F.; Castagnola, E.; Groll, A.; Giancane, G.; Horneff, G.; Huppertz, H. I.; Lovell, D.; Wolfs, T.; Hofer, M.; Alekseeva, E.; Panaviene, V.; Nielsen, S.; Anton, J.; Uettwiller, F.; Stanevicha, V.; Trachana, M.; De Benedetti, F.; Ailioaie, L. M.; Tsitami, E.; Kamphuis, S.; Herlin, T.; Dolezalova, P.; Susic, G.; Sztajnbok, F.; Flato, B.; Pistorio, A.; Martini, A.; Wulffraat, N.; Ruperto, N.; Shoop, Stephanie J. W.; Verstappen, Suzanne M. M.; McDonagh, Janet E.; Thomson, Wendy; Hyrich, Kimme L.; Tarkiainen, Maarit; Tynjala, Pirjo; Lahdenne, Pekka; Martikainen, Janne; Wilkinson, Meredyth; Piper, Christopher; Otto, Georg; Deakin, Claire T.; Dowle, Stefanie; Simou, Stefania; Kelberman, Daniel; Ioannou, Yiannis; Mauri, Claudia; Jury, Elizabeth; Isenberg, David; Wedderburn, Lucy R.; Nistala, Kiran; Foeldvari, I.; Ruperto, N.; Lovell, D. J.; Horneff, G.; Huppertz, H. I.; Quartier, P.; Simonini, G.; Bereswill, M.; Kalabic, J.; Martini, A.; Brunner, H. I.; Oen, Kiem; Guzman, Jaime; Feldman, Brian M.; Dufault, Brenden; Lee, Jennifer; Shiff, Natalie; Duffy, Karen Watanabe; Tucker, Lori; Duffy, Ciaran; Ruperto, N.; Lovell, D. J.; Tzaribachev, N.; Vega-Cornejo, G.; Louw, I.; Berman, A.; Calvo, I.; Cuttica, R.; Horneff, G.; Avila-Zapata, F.; Anton, J.; Cimaz, R.; Solau-Gervais, E.; Joos, R.; Espada, G.; Li, X.; Nys, M.; Wong, R.; Banerjee, S.; Martini, A.; Brunner, H. I.; Nicolai, Rebecca; Marafon, Denise Pires; Verardo, Margherita; D’Amico, Adele; Bracci-Laudiero, Luisa; De Benedetti, Fabrizio; Moneta, Gian Marco; Belot, Alexandre; Rice, Gillian; Mathieu, Anne-Laure; Omarjee, Sulliman O.; Bader-Meunier, Brigitte; Walzer, Thierry; Briggs, Tracy A.; O’Sullivan, James; Williams, Simon; Cimaz, Rolando; Smith, Eve; Beresford, Michael W.; Crow, Yanick J.; Rooney, Madeleine; Bishop, Nick; davidson, joyce; pilkington, Clarissa; Beresford, Michael; Clinch, Jacqui; Satyapal, Rangaraj; Foster, Helen; Medwin, Janet Gardner; McDonagh, Janet; Wyatt, Sue; Modignani, Valentina Litta; Baldo, Francesco; Lanni, Stefano; Consolaro, Alessandro; Ravelli, Angelo; Filocamo, Giovanni; Omenetti, Alessia; Frenkel, Joost; Lachmann, Helen J.; Ozen, Seza; Ruperto, Nicolino; Gattorno, Marco; Insalaco, Antonella; Moneta, Gianmarco; Pardeo, Manuela; Passarelli, Chiara; Celani, Camilla; Messia, Virginia; De Benedetti, Fabrizio; Cherqaoui, Bilade; Rossi-Semerano, Linda; Dusser, Perrine; Hentgen, Véronique; Koné-Paut, Isabelle; Grimwood, Claire; Dusser, Perrine; Rossi, Linda; Paut, Isabelle Kone; Hentgen, Veronique; Lasigliè, Denise; Ferrera, Denise; Amico, Giulia; Di Duca, Marco; Caorsi, Roberta; Lepore, Loredana; Insalaco, Antonella; Cattalini, Marco; Obici, Laura; Consolini, Rita; Ravazzolo, Roberto; Martini, Alberto; Ceccherini, Isabella; Nishikomori, Ryuta; Arostegui, Juan; Gattorno, Marco; Borghini, Silvia; Penco, Federica; Petretto, Andrea; Lavarello, Chiara; Inglese, Elvira; Omenetti, Alessia; Finetti, Martina; Pastorino, Claudia; Bertoni, Arinna; Gattorno, Marco; Vanoni, Federica; Federici, Silvia; Ozen, Seza; Frenkel, Joost; Lachmann, Helen; Martini, Alberto; Ruperto, Nicola; Gattorno, Marco; Hofer, Michaël; Kuemmerle-Deschner, J. B.; Hoffman, H. M.; Hawkins, P. N.; van der Poll, T.; Walker, U. A.; Speziale, A.; Joubert, Y.; Tilson, H. H.; Kuemmerle-Deschner, Jasmin; Ozen, Seza; Tyrrell, Pascal N.; Koné-Paut, Isabelle; Goldbach-Mansky, Raphaela; Lachmann, Helen; Blank, Norbert; Hoffman, Hal M.; Weissbarth-Riedel, Elisabeth; Huegle, Boris; Kallinich, Tilmann; Gattorno, Marco; Gul, Ahmet; ter Haar, Nienke M.; Oswald, Marlen; Dedeoglu, Fatma; Benseler, Susanne M.; Hanaya, Aki; Miyamae, Takako; Kawamoto, Manabu; Tani, Yumi; Hara, Takuma; Kawaguchi, Yasushi; Nagata, Satoru; Yamanaka, Hisashi; Ćosićkić, Almira; Skokić, Fahrija; Čolić, Belkisa; Suljendić, Sanimir; Kozlova, Anna; Mersiyanova, Irina; Panina, Mariya; Hachtryan, Lily; Burlakov, Vasiliy; Raikina, Elena; Maschan, Alexey; Shcherbina, Anna; Acar, Banu; Albayrak, Meryem; Sozeri, Betul; Sahin, Sezgin; Barut, Kenan; Adrovic, Amra; Inan, Nese; Sevgi, Serhan; Kasapcopur, Ozgur; Andreasen, Caroline M.; Jurik, Anne Grethe; Glerup, Mia B.; Høst, Christian; Mahler, Birgitte T.; Hauge, Ellen-Margrethe; Herlin, Troels; Lazea, Cecilia; Damian, Laura; Lazar, Calin; Manasia, Rodica; Stephenson, Chloe M.; Prajapati, Vimal; Miettunen, Paivi M.; Yılmaz, Dilek; Tokgöz, Yavuz; Bulut, Yasin; Çakmak, Harun; Sönmez, Ferah; Comak, Elif; Aksoy, Gülşah Kaya; Koyun, Mustafa; Akman, Sema; Arıkan, Yunus; Terzioğlu, Ender; Özdeş, Osman Nidai; Keser, İbrahim; Koçak, Hüseyin; Bingöl, Ayşen; Yılmaz, Aygen; Artan, Reha; De Benedetti, F.; Anton, J.; Gattorno, M.; Lachmann, H.; Kone-Paut, I.; Ozen, S.; Frenkel, J.; Simon, A.; Zeft, A.; Ben-Chetrit, E.; Hoffman, H. M.; Joubert, Y.; Lheritier, K.; Speziale, A.; Guido, J.; Xu, X.; Mehregan, Fatemeh F.; Ziaee, Vahid; Moradinejad, Mohammad H.; Ferrara, Giovanna; Pastore, Serena; Insalaco, Antonella; Pardeo, Manuela; Tommasini, Alberto; La Torre, Francesco; Alizzi, Clotilde; Cimaz, Rolando; Finetti, Martina; Gattorno, Marco; D’Adamo, Pio; Taddio, Andrea; Lachmann, H.; Simon, A.; Anton, J.; Gattorno, M.; Kone-Paut, I.; Ozen, S.; Frenkel, J.; Ben-Chetrit, E.; Hoffman, H.; Zeft, A.; Joubert, Y.; Lheritier, K.; Speziale, A.; Junge, G.; Gregson, J.; De Benedetti, F.; Sargsyan, Hasmik; Sargsyan, Hasmik; Zengin, Hulya; Fidanci, Berna E.; Kaymakamgil, Cagla; Konukbay, Dilek; Simsek, Dogan; Batu, Ezgi D.; Yildiz, Dilek; Gok, Faysal; Ozen, Seza; Demirkaya, Erkan; Stoler, Iris; Freytag, Judith; Orak, Banu; Seib, Christine; Esmann, Lars; Seipelt, Eva; Gohar, Faekah; Foell, Dirk; Wittkowski, Helmut; Kallinich, Tilmann; Dursun, Ismail; Tulpar, Sebahat; Yel, Sibel; Kartal, Demet; Borlu, Murat; Bastug, Funda; Poyrazoglu, Hakan; Gunduz, Zubeyde; Kose, Kader; Yuksel, Mehmet E.; Calıskan, Abdullah; Cekgeloglu, Ahmet B.; Dusunsel, Ruhan; Bouchalova, Katerina; Franova, Jana; Schuller, Marcel; Macku, Marie; Theodoropoulou, Katerina; Carlomagno, Raffaella; von Scheven-Gête, Annette; Poloni, Claudia; Hofer, Michael; Damian, Laura O.; Cosma, Dan; Radulescu, Amanda; Vasilescu, Dan; Rogojan, Liliana; Lazar, Calin; Rednic, Simona; Lupse, Mihaela; De Somer, Lien; Moens, Pierre; Wouters, Carine; Zavala, Rocio Galindo; Pedraz, Laura Martín; Cuadros, Esmeralda Núñez; Rego, Gisela Díaz-Cordovés; Cardona, Antonio L. Urda; Zavala, Rocio Galindo; Pedraz, Laura Martín; Cuadros, Esmeralda Núñez; Rego, Gisela Díaz-Cordovés; Cardona, Antonio L. Urda; Forno, Ilaria Dal; Pieropan, Sara; Viapiana, Ombretta; Gatti, Davide; Dallagiacoma, Gloria; Caramaschi, Paola; Biasi, Domenico; Windschall, Daniel; Trauzeddel, Ralf; Lehmann, Hartwig; Ganser, Gerd; Berendes, Rainer; Haller, Maria; Krumrey-Langkammerer, Manuela; Nimtz-Talaska, Antje; Schoof, Philipp; Trauzeddel, Ralf Felix; Nirschl, Christine; Quesada-Masachs, Estefania; Blancafort, Carla Aguilar; Barril, Sara Marsal; Caballero, Consuelo Modesto; Aguiar, Francisca; Fonseca, Rita; Alves, Duarte; Vieira, Ana; Vieira, Alberto; Dias, Jorge A.; Brito, Iva; Susic, Gordana; Milic, Vera; Radunovic, Goran; Boricic, Ivan; Marteau, Pauline; Adamsbaum, Catherine; Rossi-Semerano, Linda; De Bandt, Michel; Lemelle, Irène; Deslandre, Chantal; Tran, Tu Anh; Lohse, Anne; Solau-Gervais, Elisabeth; Pillet, Pascal; Bader-Meunier, Brigitte; Wipff, Julien; Gaujoux-Viala, Cécile; Breton, Sylvain; Devauchelle-Pensec, Valérie; Gran, Sandra; Fehler, Olesja; Zenker, Stefanie; Schäfers, Michael; Roth, Johannes; Vogl, Thomas; Czitrom, Severine Guillaume; Foell, Dirk; Holzinger, Dirk; Lanni, Stefano; Van Dijkhuizen, EH Pieter; Manzoni, Silvia Magni; Marafon, Denise Pires; Magnaguagno, Francesca; de Horatio, Laura Tanturri; Ter Haar, Nienke M.; Littooij, Annemieke S.; Vastert, Sebastiaan J.; De Benedetti, Fabrizio; Ravelli, Angelo; Martini, Alberto; Malattia, Clara; Teixeira, Vitor A.; Campanilho-Marques, Raquel; Mourão, Ana F.; Ramos, Filipa O.; Costa, Manuela; Madan, Wafa A.; Killeen, Orla G.; Vidal, Adriana Rodriguez; Delgado, Diana Sueiro; Fernandez, Maria Isabel Gonzalez; Montesinos, Berta Lopez; Penades, Inmaculada Calvo; Kozhevnikov, Aleksey; Pozdeeva, Nina; Konev, Mikhail; Melchenko, Evgeniy; Kenis, Vladimir; Novik, Gennadiy; Sozeri, Betul; Kısaarslan, Aysenur Pac; Gunduz, Zubeyde; Poyrazoglu, Hakan; Dusunsel, Ruhan; Lerkvaleekul, Butsabong; Jaovisidha, Suphaneewan; Sungkarat, Witaya; Chitrapazt, Niyata; Fuangfa, Praman; Ruangchaijatuporn, Thumanoon; Vilaiyuk, Soamarat; Pradsgaard, Dan Ø.; Hørlyck, Arne; Spannow, Anne H.; Heuck, Carsten W.; Herlin, Troels; Diaz, Talia; Garcia, Fernando; De La Cruz, Lorenia; Rubio, Nadina; Świdrowska-Jaros, Joanna; Smolewska, Elzbieta; Lamot, Mirta; Lamot, Lovro; Vidovic, Mandica; Bosak, Edi Paleka; Rados, Ivana; Harjacek, Miroslav; Tzaribachev, Nikolay; Louka, Polymnia; Hagoug, Romiesa; Trentin, Chiara; Kubassova, Olga; Hinton, Mark; Boesen, Mikael; Oshlianska, Olena A.; Chaikovsky, Illya A.; Mjasnikov, G.; Kazmirchyk, A.; Garagiola, Umberto; Borzani, Irene; Cressoni, Paolo; Corona, Fabrizia; Dzsida, Eszter; Farronato, Giampietro; Garagiola, Umberto; Cressoni, Paolo; Corona, Fabrizia; Petaccia, Antonella; Dzsida, Eszter; Farronato, Giampietro; Gagro, Alenka; Pasini, Agneza Marija; Roic, Goran; Vrdoljak, Ozren; Lujic, Lucija; Zutelija-Fattorini, Matija; Esser, Monika M.; Abraham, Deepthi R.; Kinnear, Craig; Durrheim, Glenda; Urban, Mike; Hoal, Eileen; Crow, Yanick; Oshlianska, Olena A.; Nikolayenko, Victoria B.; Şahin, Kubilay; Karaaslan, Yasar; Civino, Adele; Alighieri, Giovanni; Davì, Sergio; Rondelli, Roberto; Martino, Silvana; Filocamo, Giovanni; Magnolato, Andrea; Ricci, Francesca; Gallizzi, Romina; Olivieri, Alma; Gerloni, Valeria; Lattanzi, Bianca; Soscia, Francesca; De Fanti, Alessandro; Manzoni, Silvia Magni; Citiso, Stefania; Quartulli, Lorenzo; La Torre, Francesco; Rigante, Donato; Maggio, Maria Cristina; Marsili, Manuela; Pelagatti, Maria Antonietta; Conter, Valentino; Fagioli, Franca; Lepore, Loredana; Pession, Andrea; Ravelli, Angelo; Consolaro, Alessandro; Ruperto, Nicolino; Garrone, Marco; Rinaldi, Mariangela; De Inocencio, Jaime; Demirkaya, Erkan; Garay, Stella; Foell, Dirk; Lovell, Daniel J.; Lazar, Calin; Nielsen, Susan; Flato, Berit; Martini, Alberto; Ravelli, Angelo; Marasco, Emiliano; Aquilani, Angela; Cascioli, Simona; Caiello, Ivan; Moneta, Gian Marco; Pires-Marafón, Denise; Magni-Manzoni, Silvia; Carsetti, Rita; De Benedetti, Fabrizio; Robinson, Emily; Albani, Salvatore; Beresford, Michael W.; de Jager, Wilco; de Roock, Sytze; Duong, Trang; Ellis, Justine; Hyrich, Kimme; Jervis, Laetitia; Lovell, Daniel; Marshall, Lucy; Mellins, Elizabeth D.; Minden, Kirsten; Munro, Jane; Nigrovic, Peter A.; Palman, Jason; Roth, Johannes; Ruperto, Nicolino; Sampath, Sunil; Schanberg, Laura E.; Thompson, Susan D.; Thomson, Wendy; Vesely, Richard; Wallace, Chris; Williams, Chris; Wu, Qiong; Wulffraat, Nico; Yeung, Rae S. M.; Prakken, Berent; Wedderburn, Lucy R.; Horneff, G.; Seyger, M. B.; Arikan, D.; Kalabic, J.; Anderson, J. K.; Lazar, A.; Williams, D. A.; Wang, C.; Tarzynski-Potempa, R.; Hymans, J. S.; Simonini, Gabriele; Scoccimarro, Erika; Pontikaki, Irene; Ferrara, Giovanna; Giani, Teresa; Ventura, Alessandro; Meroni, Pier Luigi; Cimaz, Rolando; Minnone, Gaetana; Soligo, Marzia; Caiello, Ivan; Prencipe, Giusi; Marafon, Denise Pires; Magni-Manzoni, Silvia; Manni, Luigi; De Benedetti, Fabrizio; Laudiero, Luisa Bracci; Groot, Noortje; Grein, I.; Wulffraat, N. M.; Schepp, R.; Berbers, G.; de Souza, C. C. Barbosa Sandoval; Ferriani, V. Paes Leme; Pileggi, G.; de Roock, S.; Grein, Ingrid H. R.; Scala, Silvia; Patrone, Elisa; Schoemaker, Casper; Costello, Wendy; Wulffraat, Nico; Parsons, Suzanne; McDonagh, Janet; Thomson, Wendy; Cohen, Jean-David; Bentayou, Damien; Brunel, Marc-Antoine Bernard; Trope, Sonia; Klotsche, Jens; Listing, Miriam; Niewerth, Martina; Horneff, Gerd; Thon, Angelika; Huppertz, Hans-Iko; Mönkemöller, Kirsten; Foeldvari, Ivan; Föll, Dirk; Minden, Kirsten; Marino, Achille; Stagi, Stefano; Carli, Niccolò; Bertini, Federico; Giani, Teresa; Simonini, Gabriele; Cimaz, Rolando; Díaz-Maldonado, Adriana S.; Pino, Sally; Guarnizo, Pilar; Torres-Jimenez, Alfonso Ragnar; Sanchez-Jara, Berenice; Solis-Vallejo, Eunice; Cespedes-Cruz, Adriana Ivonne; Zeferino-Cruz, Maritza; Ramirez-Miramontes, Julia Veronica; Kumar, Ankur; Gupta, Anju; Suri, Deepti; Rawat, Amit; Kakkar, Nandita; Singh, Surjit; Makay, Balahan; Gücenmez, Özge A.; Ünsal, Erbil; Magnusson, Bo; Mördrup, Karina; Vermé, Anna; Peterson, Christina; Freychet, Caroline; Stephan, Jean Louis; Hofer, Michael; Belot, Alexandre; Harkness, Cathryn E.; Rooney, Madeleine; Foster, Leanne; Henry, Emma; Taggart, Pauline; Simsek, Dogan; Ozkececi, Coskun F.; Kurt, Esra; Basbozkurt, Gokalp; Gok, Faysal; Demirkaya, Erkan; Gorczyca, Daiva; Postępski, Jacek; Czajkowska, Aleksandra; Szponar, Bogumiła; Paściak, Mariola; Gruenpeter, Anna; Lachór-Motyka, Iwona; Augustyniak, Daria; Olesińska, Edyta; Asuka, Emediong S.; Golovko, Tatyana; Aliejim, Samuel U.; Clemente, Emilio Inarejos; Jimenez, Estibaliz Iglesias; Hernandez, Joan Calzada; Fernandez, Sergi Borlan; Roca, Clara Gimenez; Romo, David Moreno; Nieva, Natalia Rodriguez; Angarita, Juan Manuel Mosquera; Lopez, Jordi Anton; Nuñez-Cuadros, Esmeralda; Diaz-Cordovés, Gisela; Galindo-Zavala, Rocío; Urda-Cardona, Antonio; Fernández-Nebro, Antonio; Quesada-Masachs, Estefania; de la Sierra, Daniel Álvarez; Prat, Marina Garcia; Gallo, Mónica Martínez; Borrell, Ricardo Pujol; Barril, Sara Marsal; Sánchez, Ana M. Marín; Caballero, Consuelo Modesto; Merlin, Etienne; Breton, Sylvain; Fraitag, Sylvie; Stephan, Jean-Louis; Wouters, Carine; Bodemer, Christine; Bader-Meunier, Brigitte; Baldo, Francesco; Annoni, Federico; Di Landro, Giancarla; Torreggiani, Sofia; Torcoletti, Marta; Petaccia, Antonella; Corona, Fabrizia; Filocamo, Giovanni; Tiller, Georgina; Buckle, Jo; Munro, Jane; Cox, Angela; Gowdie, Peter; Allen, Roger C.; Akikusa, Jonathan D.; Hernández-Huirache, Hayde G.; Rodea-Montero, Edel R.; Cohen, Jean-David; Belot, Alexandre; Fahy, William; Quartier, Pierre; Sordet, Christelle; Trope, Sonia; Berggren, Karin B.; Kembe, Johanna T.; Bos, Joyce; Armbrust, Wineke; Wulffraat, Nico; van Brussel, Marco; Cappon, Jeanette; Dijkstra, Pieter; Geertzen, Jan; Legger, Elizabeth; van Rossum, Marion; Sauer, Pieter; Lelieveld, Otto; Ozturk, Kubra; Buluc, Levent; Akansel, Gur; Muezzinoglu, Bahar; Ekinci, Zelal; Rychkova, Ljubov; Knyazeva, Tatyana; Pogodina, Anna; Belova, Tatyana; Mandzyak, Tamara; Kulesh, Ekaterina; Cafarotti, Alessandro; Marsili, Manuela; Giannini, Cosimo; Salvatore, Roberta; Lapergola, Giuseppe; Di Battista, Caterina; Marcovecchio, Maria Loredana; Basilico, Raffaella; Pelliccia, Piernicola; Chiarelli, Francesco; Breda, Luciana; Almeida, Beverley; Tansley, Sarah; Simou, Stefania; Gunawardena, Harsha; McHugh, Neil; Wedderburn, Lucy; Aouizerate, Jessie; Bader-Meunier, Brigitte; De Antonio, Marie; Bodemer, Christine; Barnerias, Christine; Bassez, Guillaume; Desguerre, Isabelle; Quartier, Pierre; Gherardi, Romain; Charuel, Jean-Luc; Authier, François-Jérôme; Gitiaux, Cyril; Spencer, C. H.; Aziz, Rabheh Abdul; Yu, Chack-Yung; Adler, Brent; Bout-Tabaku, Sharon; Lintner, Katherine; Moore-Clingenpeel, Melissa; Boros, Christina; McCann, Liza; Ambrose, Nicola; Cortina-Borja, Mario; Simou, Stefania; Pilkington, Clarissa; Wedderburn, Lucy; Hinze, Claas; Oommen, Prasad T.; Speth, Fabian; Haas, Johannes-Peter; Hinze, Claas; Oommen, Prasad T.; Speth, Fabian; Haas, Johannes-Peter; Speth, Fabian; Haas, Johannes-Peter; Hinze, Claas; Lavarello, Claudio; Giancane, Gabriella; Pistorio, Angela; Rider, Lisa; Aggarwal, Rohit; Oliveira, Sheila K.; Cuttica, Ruben; Fischbach, Michel; Sterba, Gary; Brochard, Karine; Dressler, Frank; Barone, Patrizia; Burgos-Vargas, Ruben; Chalom, Elizabeth Candell; Desjonqueres, Marine; Espada, Graciela; Fasth, Anders; Garay, Stella Maris; Herbigneaux, Rose-Marie; Hoyoux, Claire; Deslandre, Chantal Job; Miller, Frederick W.; Vencovsky, Jiri; Ravelli, Angelo; Martini, Alberto; Ruperto, Nicolino; Sag, Erdal; Ozen, Seza; Kale, Gulsev; Topaloglu, Haluk; Talim, Beril; Giancane, Gabriella; Lavarello, Claudio; Pistorio, Angela; Zulian, Francesco; Magnusson, Bo; Avcin, Tadej; Corona, Fabrizia; Gerloni, Valeria; Pastore, Serena; Marini, Roberto; Martino, Silvana; Pagnier, Anne; Rodiere, Michel; Soler, Christine; Stanevicha, Valda; Ten Cate, Rebecca; Uziel, Yosef; Vojinovic, Jelena; Ravelli, Angelo; Martini, Alberto; Ruperto, Nicolino; Villarreal, Ana V.; Acevedo, Nydia; Diaz, Talia; Ramirez, Yuridiana; Faugier, Enrique; Maldonado, Rocio; Arabshahi, Bita; Lee, John H.; Leibowitz, Ian; Okong’o, Lawrence O.; Wilmshurst, Jo; Esser, Monika; Scott, Christiaan; Batu, Ezgi Deniz; Emiroglu, Nagehan; Sonmez, Hafize Emine; Tugcu, Gokcen Dilsa; Arici, Zehra Serap; Yalcin, Ebru; Dogru, Deniz; Ozcelik, Ugur; Bilginer, Yelda; Haliloglu, Mithat; Kiper, Nural; Ozen, Seza; Yashiro, Masato; Yamada, Mutsuko; Yabuuchi, Toshihiko; Kikkawa, Tomonobu; Nosaka, Nobuyuki; Fujii, Yosuke; Saito, Yukie; Tsukahara, Hirokazu; Al-Mayouf, Sulaiman M.; AlMutiari, Nora; Muzaffer, Mohammed; shehata, Rawiah; Al-Wahadneh, Adel; Abdwani, Reem; Al-Abrawi, Safia; Abu-shukair, Mohammed; El-Habahbeh, Zeyad; Alsonbul, Abdullah; Szabat, Aleksandra; Chęć, Monika; Opoka-Winiarska, Violetta; Kumar, Ankur; Gupta, Anju; Rawat, Amit; Saikia, Biman; Minz, Ranjana W.; Suri, Deepti; Singh, Surjit; Arango, Christine; Malagon, Clara; Gomez, Maria D. P.; Mosquera, Angela C.; Yepez, Ricardo; Gonzalez, Tatiana; Vargas, Camilo; Zulian, Francesco; Balzarin, Marta; Castaldi, Biagio; Reffo, Elena; Sperotto, Francesca; Martini, Giorgia; Meneghel, Alessandra; Milanesi, Ornella; Foeldvari, Ivan; Klotsche, Jens; Kasapçopur, Ozgur; Adrovic, Amra; Stanevicha, Valda; Terreri, Maria Teresa; Alexeeva, Ekaterina; Katsicas, Maria; Cimaz, Rolando; Kostik, Mikhail; Lehman, Thomas; Sifuentes-Giraldo, W.-Alberto; Smith, Vanessa; Sztajnbok, Flavio; Avcin, Tadey; Santos, Maria Jose; Nemcova, Dana; Battagliotti, Cristina; Eleftheriou, Despina; Harel, Liora; Janarthanan, Mahesh; Kallinich, Tilmann; Lopez, Jordi Anton; Minden, Kirsten; Nielsen, Susan; Torok, Kathryn; Uziel, Yosef; Helmus, Nicola; Foeldvari, Ivan; Baildem, Eileen; Blakley, Michael; Boros, Christina; Fligelstone, Kim; Kienast, Antonia; Nemcova, Dana; Pain, Clare; Saracino, Amanda; Simoni, Gabriele; Torok, Kathryn; Weibel, Lisa; Helmus, Nicola; Foeldvari, Ivan; Klotsche, Jens; Kasapçopur, Ozgur; Adrovic, Amra; Stanevicha, Valda; Terreri, Maria Teresa; Alexeeva, Ekaterina; Katsicas, Maria; Cimaz, Rolando; Kostik, Mikhail; Lehman, Thomas; Sifuentes-Giraldo, W.-Alberto; Smith, Vanessa; Sztajnbok, Flavio; Avcin, Tadey; Santos, Maria Jose; Nemcova, Dana; Battagliotti, Cristina; Eleftheriou, Despina; Harel, Liora; Janarthanan, Mahesh; Kallinich, Tilmann; Lopez, Jordi Anton; Minden, Kirsten; Nielsen, Susan; Torok, Kathryn; Uziel, Yosef; Helmus, Nicola; Osminina, Maria K.; Geppe, Nathalia A.; Niconorova, Olga V.; Karashtina, Olesya V.; Abbyasova, Oksana V.; Shpitonkova, Olga V.; Adrovic, Amra; Sahin, Sezgin; Barut, Kenan; Durmus, Sinem; Uzun, Hafize; Kasapcopur, Ozgur; Foeldvari, Ivan; Klotsche, Jens; Kasapçopur, Ozgur; Adrovic, Amra; Stanevicha, Valda; Terreri, Maria Teresa; Alexeeva, Ekaterina; Katsicas, Maria; Cimaz, Rolando; Kostik, Mikhail; Lehman, Thomas; Sifuentes-Giraldo, W.-Alberto; Smith, Vanessa; Sztajnbok, Flavio; Avcin, Tadey; Santos, Maria Jose; Nemcova, Dana; Battagliotti, Cristina; Eleftheriou, Despina; Harel, Liora; Janarthanan, Mahesh; Kallinich, Tilmann; Lopez, Jordi Anton; Minden, Kirsten; Nielsen, Susan; Torok, Kathryn; Uziel, Yosef; Helmus, Nicola; Mauro, Angela; Fanti, Eleonora; Voller, Fabio; Rusconi, Franca; Cimaz, Rolando; Garcia-Rodriguez, Fernando; Villarreal-Treviño, Ana V.; Flores-Pineda, Angel J.; Lara-Herrea, Paola B.; Salinas-Encinas, Diego R.; Diaz-Prieto, Talia; Maldonado-Velazquez, Maria R.; Moreno-Espinosa, Sarbelio; Faugier-Fuentes, Enrique; Gallizzi, Romina; Finetti, Martina; Crapanzano, Mirella; Cantarini, Luca; Cattalini, Marco; Filocamo, Giovanni; Insalaco, Antonella; Mauro, Angela; Rigante, Donato; Zulian, Francesco; Alessio, Maria; Parissenti, Ilaria; Ruperto, Nicolino; Gattorno, Marco; Cimaz, Rolando; Parihar, Man S.; Singh, Surjit; Vignesh, Pandiarajan; Gupta, Anju; Rohit, ManojKumar; Gopalan, Kavitha; Singh, Surjit; Vignesh, Pandiarajan; Gupta, Anju; Rohit, ManojKumar; Attri, Savita V.; Hong, Ying; Eleftheriou, Despina; Nanthapisal, Sira; Salama, Alan; Jayne, David; Little, Mark; Brogan, Paul; Kostina, Yulia; Lyskina, Galina; Shpitonkova, Olga; Torbyak, Alena; Lyskina, Galina; Shirinsky, Olga; Mauro, Angela; Gicchino, Maria Francesca; Smaldone, Maria Cristina; Diplomatico, Mario; Olivieri, Alma Nunzia; Spencer, C H.; Aziz, Rabheh Abdul; McClead, Richard; Bout-Tabaku, Sharon; Patel, Hiren; Yu, Chung-Yung; Ozkececi, Coskun F.; Basbozkurt, Gokalp; Simsek, Dogan; Kurt, Esra; Gok, Faysal; Demirkaya, Erkan; Cebecauerová, Dita; Dallos, Tomáš; Kabíčková, Edita; Kynčl, Martin; Chroustová, Daniela; Hoza, Jozef; Němcová, Dana; Tesař, Vladimír; Doležalová, Pavla; Batu, Ezgi Deniz; Sonmez, Hafize Emine; Hazirolan, Tuncay; Ozaltin, Fatih; Bilginer, Yelda; Ozen, Seza; Almeida, Fabiola; de Paula, Isabela H. Faria; Sampaio, Maíra M.; Arita, Fernando N.; Alves, Andressa G.; Santos, Maria Carolina; Okuda, Eunice M.; Sacchetti, Silvana B.; Falcini, Fernanda; Francesca, Marini; Stagi, Stefano; Rigante, Donato; Lepri, Gemma; Matucci-Cerinic, Marco; Brandi, Maria Luisa; Di Landro, Giancarla; Torreggiani, Sofia; Petaccia, Antonella; Torcoletti, Marta; Corona, Fabrizia; Filocamo, Giovanni; Kisaoglu, Hakan; Misir, Sema; Demir, Selim; Aliyazicioglu, Yuksel; Kalyoncu, Mukaddes; de Paula, Isabela H. Faria; Ramalho, Carlos Eduardo; Almeida, Fabiola D.; Alves, Andressa G.; Santos, Maria Carolina; Sacchetti, Silvana B.; Okuda, Eunice M.; Calzada-Hernández, Joan; Bou, Rosa; Iglesias, Estíbaliz; Sánchez-Manubens, Judith; Martínez, Fredy Hermógenes Prada; Roca, Clara Giménez; Fernández, Sergi Borlan; Angarita, Juan Manuel Mosquera; Anton, Jordi; Bohm, Marek; Mahmood, Kamran; Leone, Valentina; Wood, Mark; Yamaguchi, Ken-Ichi; Fujikawa, Satoshi; Kim, Kyu Yeun; Kim, Do Young; Kim, Dong Soo; Ioseliani, Maka; Chkhaidze, Ivane; Lekishvili, Maia; Tskhakaia, Nana; Tvalabeishvili, Shorena; Kajrishvili, Aleksandre; Takakura, Maiko; Shimizu, Masaki; Inoue, Natsumi; Mizuta, Mao; Yachie, Akihiro; Alizzi, Clotilde; Corsello, Giovanni; Maggio, Maria Cristina; Piram, Maryam; Maldini, Carla; Biscardi, Sandra; Desuremain, Nathalie; Orzechowski, Catherine; Georget, Emilie; Regnard, Delphine; Kone-Paut, Isabelle; Mahr, Alfred; Sparchez, Mihaela; Damian, Laura; Sparchez, Zeno; Silva, Nydia Acevedo; Treviño, Ana V. Villarreal; Loyola, Yuridiana Ramirez; Prieto, Talia Diaz; Fuentes, Enrique Faugier; Velazquez, Maria D. R. Maldonado; Perez, Pilar; Mosquera, Angela C.; Malagon, Clara; Bhattad, Sagar; Rawat, Amit; Saikia, Biman; Minz, Ranjana; Shandilya, Jitendra; Singh, Surjit; Parihar, Man S.; Singh, Surjit; Vignesh, Pandiarajan; Gupta, Anju; Rohit, ManojKumar; Maldonado, Rocio; Faugier, Enrique; Villarreal, Ana; Acevedo, Nydia; Ramírez, Yuridiana; Diaz, Talia; Kostina, Yulia; Lyskina, Galina; Shpitonkova, Olga; Ozturk, Kubra; Ekinci, Zelal; Özçakar, Zeynep Birsin; Fitoz, Suat; Yalcinkaya, Fatos; Horne, Annacarin; Minoia, Francesca; Bovis, Francesca; Davi, Sergio; Pal, Priyankar; Anton, Jordi; Stein, Kimo; Enciso, Sandra; Kasapcopur, Ozgur; Jeng, Michael; Maritsi, Despoina; Cron, Randy C.; Ravelli, Angelo; Thorwarth, Anne; von Stuckrad, Sae Lim; Rösen-Wolff, Angela; Luksch, Hella; Hundsdoerfer, Patrick; Minden, Kirsten; Krawitz, Peter; Kallinich, Tilmann; Sozeri, Betul; Ayaz, Nuray Aktay; Batu, Ezgi Deniz; Makay, Balahan; Şahin, Sezgin; Simsek, Doğan; Kılıc, Şebnem Sara; Ozturk, Kubra; Sonmez, Emine; Kisaarslan, Aysenur Pac; Gucenmez, Ozge Altug; Cakan, Mustafa; Arıcı, Z. Serap; Adrovic, Amra; Kelesoglu, Fatih; Bilginer, Yelda; Demirkaya, Erkan; Ekinci, Zelal Ekinci; Dusunsel, Ruhan; Unsal, Erbil; Kasapcopur, Ozgur; Ozen, Seza; Lerkvaleekul, Butsabong; Vilaiyuk, Soamarat; Miranda-Garcia, Maria; Pretzer, Carolin; Huppertz, Hans-Iko; Horneff, Gerd; Haas, Johannes-Peter; Ganser, Gerd; Kuemmerle-Deschner, Jasmin; Wittkowski, Helmut; Frosch, Michael; Roth, Johannes; Foell, Dirk; Holzinger, Dirk; Gohar, F.; McArdle, Angela; Callan, Niamh; Hernandez, Belinda; Lavric, Miha; Kessel, Christoph; Holzinger, Dirk; FitzGerald, Oliver; Pennington, Stephen R.; Foell, Dirk; Horneff, Gerd; Peitz, Joachim; Kekow, Joern; Klein, Ariane; Horneff, Gerd; Schulz, Anna C.; Minden, Kirsten; Weller-Heinemann, Frank; Hospach, Anton; Haas, J-Peter; Put, Karen; Vandenhaute, Jessica; Avau, Anneleen; van Nieuwenhuijze, Annemarie; Brisse, Ellen; Dierckx, Tim; Rutgeerts, Omer; Garcia-Perez, Josselyn E.; Toelen, Jaan; Waer, Mark; Leclercq, Georges; Goris, An; Van Weyenbergh, Johan; Liston, Adrian; De Somer, Lien; Matthys, Patrick; Wouters, Carine H.; Mizuta, Mao; Shimizu, Masaki; Inoue, Natsumi; Nakagishi, Yasuo; Yachie, Akihiro; Shimizu, Masaki; Inoue, Natsumi; Mizuta, Mao; Yachie, Akihiro; Ombrello, Michael J.; Arthur, Victoria; Remmers, Elaine F.; Hinks, Anne; Kastner, Daniel L.; Woo, Patricia; Thomson, Wendy; Stanimirovic, Barbara; Djurdjevic-Banjac, Biljana; Ljuboja, Olivera; Hugle, Boris; Speth, Fabian; Haas, Johannes-Peter; Maritsi, Despoina; Onoufriou, MArgarita; Vougiouka, Olga; Eleftheriou, Despina; Horneff, Gerd; Peitz, Joachim; Kekow, Joern; Foell, Dirk; Bouayed, Kenza; El Hani, Sanae; Hafid, Imane; Mikou, Nabiha; Ioseliani, Maka; Lekishvili, Maia; Shelia, Nunu; Tvalabeishvili, Shorena; Kajrishvili, Aleksandre; Laan, Mari; Ilisson, Jaanika; Pruunsild, Chris; For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR); PRINTO/PRCSG; on behalf of PRINTO and Eurofever registry; on behalf of ReACCh-Out Investigators; CAPS; Acute-JIA Study Group; ReACCh-Out Investigators; For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG); GENIAL Investigators, UK JSLE Study Group; On Behalf of the British Society for Paediatric and Adolescent Rheumatology; on behalf of Eurofever Registry; on behalf of EUROFEVER PROJECT; EPOCA Study Group; on behalf of Dutch JIA patient organization; on behalf of ENCA; ICON study group; Board of the Swedish Pediatric Rheumatology Registry; Juvenile Dermatomyositis Research Group (JDRG); Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS); Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR); Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR); GRIP study group; Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ); Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh; BIKER collaborative group; International Childhood Arthritis Genetics (INCHARGE) Consortium
pathogenic mutations and subsequently to ...
... McDevitt 1989; Brodde 1991) in volunteers  homozygous 
β-Adrenoceptor polymorphisms
β-Adrenoceptor polymorphisms
Leineweber, K.; Büscher, R.; Bruck, H.; Brodde, O.-E.
for the Gly389 or Arg389 β1-adrenoceptors ...
... CMT patients to display the location of  homozygous 
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
Fischer, Carina; Trajanoski, Slave; Papić, Lea; Windpassinger, Christian; Bernert, Günther; Freilinger, Michael; Schabhüttl, Maria; Arslan-Kirchner, Mine; Javaher-Haghighi, Poupak; Plecko, Barbara; Senderek, Jan; Rauscher, Christian; Löscher, Wolfgang N.; Pieber, Thomas R.; Janecke, Andreas R.; Auer-Grumbach, Michaela
regions and their extent of marker count ...
... carried the silent mutation in the  homozygous 
Common silent mutations in all types of hereditary complement C1q deficiencies
Common silent mutations in all types of hereditary complement C1q deficiencies
Petry, Franz; Loos, Michael
(18%) or heterozygous (36%) state. ...
... of homozygotes. Results A scan for  homozygous 
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Pausch, Hubert; Schwarzenbacher, Hermann; Burgstaller, Johann; Flisikowski, Krzysztof; Wurmser, Christine; Jansen, Sandra; Jung, Simone; Schnieke, Angelika; Wittek, Thomas; Fries, Ruedi
haplotype deficiency in 25,544 Fleckvieh ...
... sex reversal, who was, surprisingly,  homozygous 
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
Pop, Ramona; Zaragoza, Michael V.; Gaudette, Mara; Dohrmann, Ulrike; Scherer, Gerd
for the nonsense mutation Y440X. ...
... nigra. In addition, we observed in the  homozygous 
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3416insG mice
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3416insG mice
Rosemann, Michael; Ivashkevich, Alesia; Favor, Jack; Dalke, Claudia; Hölter, Sabine M.; Becker, Lore; Rácz, Ildikó; Bolle, Ines; Klempt, Martina; Rathkolb, Birgit; Kalaydjiev, Svetoslav; Adler, Thure; Aguilar, Antonio; Hans, Wolfgang; Horsch, Marion; Rozman, Jan; Calzada-Wack, Julia; Kunder, Sandra; Naton, Beatrix; Gailus-Durner, Valerie; Fuchs, Helmut; Schulz, Holger; Beckers, Johannes; Busch, Dirk H.; Burbach, J. Peter H.; Smidt, Marten P.; Quintanilla-Martinez, Leticia; Esposito, Irene; Klopstock, Thomas; Klingenspor, Martin; Ollert, Markus; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Hrabé de Angelis, Martin; Atkinson, Michael; Heinzmann, Ulrich; Graw, Jochen
eyeless mutants increased extramedullary ...
... in Table 5. We have demonstrated a  homozygous 
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
Lomakina, Olga; Alekseeva, Ekaterina; Valieva, Sania; Bzarova, Tatiana; Nikishina, Irina; Zholobova, Elena; Rodionovskaya, Svetlana; Kaleda, Maria; Nakagishi, Yasuo; Shimizu, Masaki; Mizuta, Mao; Yachie, Akihiro; Sugita, Yuko; Okamoto, Nami; Shabana, Kousuke; Murata, Takuji; Tamai, Hiroshi; Smith, Eve M.; Yin, Peng; Jorgensen, Andrea L.; Beresford, Michael W.; Smith, Eve M.; Eleuteri, Antonio; Goilav, Beatrice; Lewandowski, Laura; Phuti, Angel; Wahezi, Dawn; Rubinstein, Tamar; Jones, Caroline; Newland, Paul; Marks, Stephen; Corkhill, Rachel; Ekdawy, Diana; Pilkington, Clarissa; Tullus, Kjell; Putterman, Chaim; Scott, Chris; Fisher, Antony C.; Beresford, Michael W.; Smith, Eve M.; Lewandowski, Laura; Phuti, Angel; Jorgensen, Andrea; Scott, Chris; Beresford, Michael W.; Batu, Ezgi Deniz; Kosukcu, Can; Taskiran, Ekim; Akman, Sema; Ozturk, Kubra; Sozeri, Betul; Unsal, Erbil; Ekinci, Zelal; Bilginer, Yelda; Alikasifoglu, Mehmet; Ozen, Seza; Lythgoe, Hanna; Beresford, Michael W.; Brunner, Hermine I.; Gulati, Gaurav; Jones, Jordan T.; Altaye, Mekibib; Eaton, Jamie; Difrancesco, Mark; Yeo, Joo Guan; Leong, Jingyao; Bathi, Loshinidevi D/O Thana; Arkachaisri, Thaschawee; Albani, Salvatore; Abdelrahman, Nagla; Beresford, Michael W; Leone, Valentina; Groot, Noortje; Shaikhani, D.; Bultink, I. E. M.; Bijl, M.; Dolhain, R. J. E. M.; Teng, Y. K. O.; Zirkzee, E.; de Leeuw, K.; Fritsch-Stork, R.; Kamphuis, S. S. M.; Wright, Rachael D.; Smith, Eve M.; Beresford, Michael W.; Abdawani, Reem; Al Shaqshi, Laila; Al Zakwani, Ibrahim; Gormezano, Natali W.; Kern, David; Pereira, Oriany L.; Esteves, Gladys C. C.; Sallum, Adriana M.; Aikawa, Nadia E.; Pereira, Rosa M.; Silva, Clovis A.; Bonfa, Eloisa; Beckmann, Jessica; Bartholomä, Nora; Venhoff, Nils; Henneke, Philipp; Salzer, Ulrich; Janda, Ales; Boteanu, Alina Lucica; Corral, Sandra Garrote; Giraldo, Alberto Sifuentes; Gámir, Mariluz Gámir; Mendoza, Antonio Zea; Adrovic, Amra; Dedeoglu, Reyhan; Sahin, Sezgin; Barut, Kenan; Koka, Aida; Oztunc, Funda; Kasapcopur, Ozgur; Rodriguez-Lozano, Ana Luisa; Rivas-Larrauri, Francisco; de la Puente, Silvestre García; Alves, Andressa G. F.; Giacomin, Maria F. D. A.; Farhat, Juliana; Braga, Alfésio L. F.; Sallum, Adriana M. E.; Campos, Lúcia M. D. A.; Pereira, Luiz A. A.; Lichtenfels, Ana J. D. F. C.; Silva, Clóvis A.; Farhat, Sylvia C. L.; Acar, Banu; Ozcakar, Z. Birsin; Çakar, Nilgün; Uncu, Nermin; Gür, Gökçe; Özdel, Semanur; Yalçınkaya, Fatoş; Scott, Christiaan; Brice, Nicky; Nourse, Peter; Lewandowski, Laura; Arango, Christine; Mosquera, Angela C.; Malagon, Clara; Sakamoto, Ana P.; Silva, Clovis A.; Silva, Marco F. C. D.; Lopes, Ananadreia S.; Russo, Gleice C. S.; Sallum, Adriana E. M.; Kozu, Katia; Bonfá, Eloisa; Saad-Magalhães, Claudia; Pereira, Rosa M. R.; Len, Claudio A.; Terreri, Maria T.; Suri, Deepti; Didel, Siyaram; Rawat, Amit; Singh, Surjit; Maritsi, Despoina; Onoufriou, MArgarita; Vougiouka, Olga; Tsolia, Maria; Bosak, Edi Paleka; Vidović, Mandica; Lamot, Mirta; Lamot, Lovro; Harjaček, Miroslav; Van Nieuwenhove, Erika; Liston, Adrian; Wouters, Carine; Tahghighi, Fatemeh; Ziaee, Vahid; Raeeskarami, Seid-Reza; Aguiar, Francisca; Pereira, Sandra; Rodrigues, Mariana; Moura, Cláudia; Rocha, Gustavo; Guimarães, Hercília; Brito, Iva; Aguiar, Francisca; Fonseca, Rita; Rodrigues, Mariana; Brito, Iva; Horneff, Gerd; Klein, Ariane; Minden, Kirsten; Huppertz, Hans-Iko; Weller-Heinemann, Frank; Kuemmerle-Deschner, Jasmin; Haas, J-Peter; Hospach, Anton; Menendez-Castro, Ricardo; Huegle, Boris; Haas, Johannes-Peter; Swart, Joost; Giancane, Gabriella; Bovis, Francesca; Castagnola, Elio; Groll, Andreas; Horneff, Gerd; Huppertz, Hans-Iko; Lovell, Daniel J.; Wolfs, Tom; Hofer, Michael; Alekseeva, Ekaterina; Panaviene, Violeta; Nielsen, Susan; Anton, Jordi; Uettwiller, Florence; Stanevicha, Valda; Trachana, Maria; Marafon, Denise Pires; Ailioaie, Constantin; Tsitsami, Elena; Kamphuis, Sylvia; Herlin, Troels; Doležalová, Pavla; Susic, Gordana; Flatø, Berit; Sztajnbok, Flavio; Pistorio, Angela; Martini, Alberto; Wulffraat, Nico; Ruperto, Nicolino; Gattorno, Marco; Brucato, Antonio; Finetti, Martina; Lazaros, George; Maestroni, Silvia; Carraro, Mara; Cumetti, Davide; Carobbio, Alessandra; Lorini, Monia; Rimini, Alessandro; Marcolongo, Renzo; Valenti, Anna; Erre, Gian Luca; Belli, Riccardo; Gaita, Fiorenzo; Sormani, Maria Pia; Ruperto, Nicolino; Imazio, Massimo; Martini, Alberto; Abinun, Mario; Smith, Nicola; Rapley, Tim; McErlane, Flora; Kearsley-Fleet, Lianne; Hyrich, Kimme L.; Foster, Helen; Ruperto, Nicolino; Lovell, Daniel J.; Tzaribachev, Nikolay; Zeft, Andrew; Cimaz, Rolando; Stanevicha, Valda; Horneff, Gerd; Bohnsack, John; Griffin, Thomas; Carrasco, Ruy; Trachana, Maria; Dare, Jason; Foeldvari, Ivan; Vehe, Richard; Bovis, Francesca; Simon, Teresa; Martini, Alberto; Brunner, Hermine; Verazza, S.; Davì, S.; Consolaro, A.; Insalaco, A.; Gerloni, V.; Cimaz, R.; Zulian, F.; Pastore, S.; Corona, F.; Conti, G.; Barone, P.; Cattalini, M.; Cortis, E.; Breda, L.; Olivieri, A. N.; Civino, A.; Podda, R.; Rigante, D.; La Torre, F.; D’Angelo, G.; Jorini, M.; Gallizzi, R.; Maggio, M. C.; Consolini, R.; De Fanti, A.; Alpigiani, M. G.; Martini, A.; Ravelli, A.; Sozeri, Betul; Kısaarslan, Aysenur Pac; Gunduz, Zubeyde; Dusunsel, Ruhan; Dursun, Ismail; Poyrazoglu, Hakan; Kuchinskaya, Ekaterina; Abduragimova, Farida; Kostik, Mikhail; Sundberg, Erik; Omarsdottir, Soley; Klevenvall, Lena; Erlandsson-Harris, Helena; Basbozkurt, Gokalp; Erdemli, Ozge; Simsek, Dogan; Yazici, Fatih; Karsioglu, Yildirim; Tezcaner, Aysen; Keskin, Dilek; Ozkan, Huseyin; Acikel, Cengizhan; Ozen, Seza; Demirkaya, Erkan; Orbán, Ilonka; Sevcic, Krisztina; Brodszky, Valentin; Kiss, Emese; Tekko, Ismaiel A.; Rooney, Madeleine; McElnay, James; Taggart, Cliff; McCarthy, Helen; Donnelly, Ryan F.; Abinun, Mario; Slatter, Mary; Nademi, Zohreh; Friswell, Mark; Foster, Helen; Jandial, Sharmila; McErlane, Flora; Flood, Terence; Hambleton, Sophie; Gennery, Andrew; Cant, Andrew; Finetti, Martina; Bovis, Francesca; Swart, Joost; Doležalová, Pavla; Tsitsami, Elena; Trachana, Maria; Demirkaya, Erkan; Duong, Phoi-Ngoc; Koné-Paut, Isabelle; Vougiouka, Olga; Marafon, Denise Pires; Cimaz, Rolando; Filocamo, Giovanni; Gamir, María Luz; Stanevicha, Valda; Sanner, Helga; Carenini, Laura; Wulffraat, Nico; Martini, Alberto; Ruperto, Nicolino; Topdemir, Mesut; Basbozkurt, Gokalp; Karslioglu, Yildirim; Ozkan, Huseyin; Acikel, Cengizhan; Demirkaya, Erkan; Gok, Faysal; Zholobova, Elena; Tsurikova, Nadezhda; Ligostaeva, Elena; Ramchurn, Navdha R.; Friswell, Mark; Kostareva, O.; Nikishina, I.; Arsenyeva, S.; Rodionovskaya, S.; Kaleda, M.; Alexeev, D.; Dursun, Ismail Dursun; Sozeri, Betul; Kısaarslan, Aysenur Pac; Dusunsel, Ruhan; Poyrazoglu, Hakan; Poyrazoglu, Hakan; Murias, Sara; Barral, Estefania; Alcobendas, Rosa; Enriquez, Eugenia; Remesal, Agustin; de Inocencio, Jaime; Castro, Tania M.; Lotufo, Simone A.; Freye, Tatjana; Carlomagno, Raffaella; Zumbrunn, Thomas; Bonhoeffer, Jan; Schneider, Elvira Cannizzaro; Kaiser, Daniela; Hofer, Michaël; Hentgen, Véronique; Woerner, Andreas; Schwarz, Tobias; Klotsche, Jens; Niewerth, Martina; Horneff, Gerd; Haas, Johannes-Peter; Hospach, Anton; Huppertz, Hans-Iko; Ganser, Gerd; Minden, Kirsten; Jeyaratnam, Jerold; ter Haar, Nienke; Kasapcopur, Ozgur; Rigante, Donato; Dedeoglu, Fatma; Baris, Ezgi; Vastert, Sebastiaan; Wulffraat, Nico; Frenkel, Joost; Hausmann, Jonathan S.; Lomax, Kathleen G.; Shapiro, Ari; Durrant, Karen L.; Brogan, P. A.; Hofer, M.; Kuemmerle-Deschner, J. B.; Lauwerys, B.; Speziale, A.; Leon, K.; Wei, X.; Laxer, R. M.; Signa, Sara; Rusmini, Marta; Campione, Elena; Chiesa, Sabrina; Grossi, Alice; Omenetti, Alessia; Caorsi, Roberta; Viglizzo, Gianmaria; Martini, Alberto; Ceccherini, Isabella; Gattorno, Marco; Federici, Silvia; Frenkel, Joost; Ozen, Seza; Lachmann, Helen; Finetti, Martina; Martini, Alberto; Ruperto, Nicola; Gattorno, Marco; Federici, Silvia; Vanoni, Federica; Ozen, Seza; Hofer, Michaël; Frenkel, Joost; Lachmann, Helen; Martini, Alberto; Ruperto, Nicola; Gattorno, Marco; Gomes, Sonia Melo; Omoyinmi, Ebun; Arostegui, Juan I.; Gonzalez-Roca, Eva; Eleftheriou, Despina; Klein, Nigel; Brogan, Paul; Volpi, Stefano; Santori, Elettra; Picco, Paolo; Pastorino, Claudia; Caorsi, Roberta; Rice, Gillian; Tesser, Alessandra; Martini, Alberto; Crow, Yanick; Candotti, Fabio; Gattorno, Marco; Barut, Kenan; Sahin, Sezgin; Adrovic, Amra; Sinoplu, Ada B.; Yucel, Gozde; Pamuk, Gizem; Kasapcopur, Ozgur; Damian, Laura O.; Lazea, Cecilia; Sparchez, Mihaela; Vele, Paulina; Muntean, Laura; Albu, Adriana; Rednic, Simona; Lazar, Calin; Mendonça, Leonardo O.; Pontillo, Alessandra; Kalil, Jorge; Castro, Fabio M.; Barros, Myrthes T.; Pardeo, Manuela; Messia, Virginia; De Benedetti, Fabrizio; Insalaco, Antonella; Malighetti, Giorgia; Gorio, Chiara; Ricci, Francesca; Parissenti, Ilaria; Montesano, Paola; Bonafini, Barbara; Medeghini, Veronica; Cattalini, Marco; Giordano, Lucio; Zani, Giulia; Ferraro, Rosalba; Vairo, Donatella; Giliani, Silvia; Cattalini, Marco; Maggio, Maria Cristina; Luppino, Girolamo; Corsello, Giovanni; Fernandez, Maria Isabel Gonzalez; Montesinos, Berta Lopez; Vidal, Adriana Rodriguez; Gorospe, Juan I. Arostegui; Penades, Inmaculada Calvo; Rafiq, Nadia K.; Wynne, Karen; Hussain, Khalid; Brogan, Paul A.; Ang, Elizabeth; Ng, Nicholas; Kacar, Ayla; Gucenmez, Ozge Altug; Makay, Balahan; Unsal, Sevket Erbil; Sahin, Yasin; Barut, Kenan; Kutlu, Tufan; Cullu-Cokugras, Fugen; Sahin, Sezgin; Adrovic, Amra; Ayyildiz-Civan, Hasret; Kasapcopur, Ozgur; Erkan, Tulay; Abdawani, Reem; Al Zuhbi, Sana; Abdalla, Eiman; Russo, Ricardo A.; Katsicas, María M.; Caorsi, Roberta; Minoia, Francesca; Viglizzo, Gianmaria; Grossi, Alice; Chiesa, Sabrina; Picco, Paolo; Ravelli, Angelo; Gattorno, Marco; Bhattad, Sagar; Rawat, Amit; Gupta, Anju; Suri, Deepti; Pandiarajan, Vignesh; Nada, Ritambhra; Tiewsoh, Kaara; Hawkins, Philip; Rowczenio, Dorota; Singh, Surjit; Fingerhutova, Sarka; Franova, Jana; Prochazkova, Leona; Hlavackova, Eva; Dolezalova, Pavla; Evrengül, Havva; Yüksel, Selçuk; Doğan, Mustafa; Gürses, Dolunay; Evrengül, Harun; De Pauli, Silvia; Pastore, Serena; Bianco, Anna Monica; Severini, Giovanni Maria; Taddio, Andrea; Tommasini, Alberto; Salugina, Svetlana O.; Fedorov, Evgeny; Kamenets, Elena; Zaharova, Ekaterina; Kaleda, Maria; Salugina, Svetlana O.; Fedorov, Evgeny; Kamenets, Elena; Zaharova, Ekaterina; Kaleda, Maria; Sleptsova, Tatiana; Alexeeva, Ekaterina; Savostyanov, Kirill; Pushkov, Alexander; Bzarova, Tatyana; Valieva, Saniya; Denisova, Rina; Isayeva, Kseniya; Chistyakova, Evgeniya; Lomakina, Olga; Soloshenko, Margarita; Kaschenko, Elena; Kaneko, Utako; Imai, Chihaya; Saitoh, Akihiko; Teixeira, Vitor A.; Ramos, Filipa O.; Costa, Manuela; Aviel, Yonatan Butbul; Fahoum, Shafe; Brik, Riva; Özçakar, Zeynep Birsin; Çakar, Nilgün; Uncu, Nermin; Celikel, Banu Acar; Yalcinkaya, Fatos; Schiappapietra, Benedetta; Davi’, Sergio; Mongini, Federica; Giannone, Luisa; Bava, Cecilia; Alpigiani, Maria Giannina; Martini, Alberto; Ravelli, Angelo; Consolaro, Alessandro; Lazarevic, Dragana S.; Vojinovic, Jelena; Susic, Gordana; Basic, Jelena; Giancane, Gabriella; Muratore, Valentina; Marzetti, Valentina; Quilis, Neus; Benavente, Belen Serrano; Alongi, Alessandra; Civino, Adele; Quartulli, Lorenzo; Consolaro, Alessandro; Martini, Alberto; Ravelli, Angelo; Januskeviciute, Giedre; van Dijkhuizen, Pieter; Muratore, Valentina; Giancane, Gabriella; Schiappapietra, Benedetta; Martini, Alberto; Ravelli, Angelo; Consolaro, Alessandro; Groot, N.; van Dijk, W.; Bultink, I. E. M.; Bijl, M.; Dolhain, R. J. E. M.; Teng, Y. K. O.; Zirkzee, E.; de Leeuw, K.; Fritsch-Stork, R.; Kamphuis, S. S. M.; Groot, Noortje; Kardolus, A.; Bultink, I. E. M.; Bijl, M.; Dolhain, R. J. E. M.; Teng, Y. K. O.; Zirkzee, E.; de Leeuw, K.; Fritsch-Stork, R.; Kamphuis, S. S. M.; Suárez, Raul Gutiérrez; Nordal, Ellen B.; Rypdal, Veronika G.; Berntson, Lillemor; Ekelund, Maria; Aalto, Kristiina; Peltoniemi, Suvi; Zak, Marek; Nielsen, Susan; Glerup, Mia; Herlin, Troels; Arnstad, Ellen D.; Fasth, Anders; Rygg, Marite; Duarte, Ana Catarina; Sousa, Sandra; Teixeira, Lídia; Cordeiro, Ana; Santos, Mª José; Mourão, Ana Filipa; Santos, Maria José; Eusébio, Mónica; Lopes, Ana; Oliveira-Ramos, Filipa; Salgado, Manuel; Estanqueiro, Paula; Melo-Gomes, José; Martins, Fernando; Costa, José; Furtado, Carolina; Figueira, Ricardo; Brito, Iva; Branco, Jaime C.; Fonseca, João E.; Canhão, Helena; Mourão, Ana F.; Santos, Maria Jose; Eusébio, Mónica; Lopes, Ana; Oliveira-Ramos, Filipa; Salgado, Manuel; Estanqueiro, Paula; Melo-Gomes, José; Martins, Fernando; Costa, José; Furtado, Carolina; Figueira, Ricardo; Brito, Iva; Branco, Jaime C.; Fonseca, João E.; Canhão, Helena; Coda, Andrea; Cassidy, Samuel; West, Kerry; Hendry, Gordon; Grech, Debra; Jones, Julie; Hawke, Fiona; Grewal, Davinder Singh; Coda, Andrea; Jones, Julie; Grech, Debra; Grewal, Davinder Singh; Foley, Charlene; Killeen, Orla; MacDermott, Emma; Veale, Douglas; Fearon, Ursula; Konukbay, Dilek; Demirkaya, Erkan; Tarakci, Ela; Arman, Nilay; Barut, Kenan; Şahin, Sezgin; Adrovic, Amra; Kasapcopur, Ozgur; Munro, Jane; Consolaro, Alessandro; Morgan, Esi; Riebschleger, Meredith; Horonjeff, Jennifer; Strand, Vibeke; Bingham, Clifton; Collante, Ma. Theresa M.; Ganeva, Margarita; Stefanov, Stefan; Telcharova, Albena; Mihaylova, Dimitrina; Saraeva, Radoslava; Tzveova, Reni; Kaneva, Radka; Tsakova, Adelina; Temelkova, Katya; Picarelli, Maria Mercedes C.; Danzmann, Luiz C.; Barbé-Tuana, Florencia; Grun, Lucas K.; Jones, Marcus H.; Frković, Marijan; Ištuk, Karla; Birkić, Ika; Sršen, Saša; Jelušić, Marija; Smith, Nicola; Jandial, Sharmila; Easton, Alan; Quarmby, Rachael; Khubchandani, Raju; Chan, Mercedes; Rapley, Tim; Foster, Helen; Srp, Radoslav; Kobrova, Katerina; Franova, Jana; Fingerhutova, Sarka; Nemcova, Dana; Hoza, Jozef; Uher, Michal; Saifridova, Melania; Linkova, Lenka; Dolezalova, Pavla; Charuvanij, Sirirat; Leelayuwattanakul, Isree; Pacharapakornpong, Thita; Vallipakorn, Sakda A.-O.; Lerkvaleekul, Butsabong; Vilaiyuk, Soamarat; Muratore, Valentina; Giancane, Gabriella; Lanni, Stefano; Alongi, Alessandra; Alpigiani, Maria Giannina; Martini, Alberto; Ravelli, Angelo; Consolaro, Alessandro; Alongi, Alessandra; Bovis, Francesca; Minoia, Francesca; Davì, Sergio; Martini, Alberto; Ruperto, Nicolino; Cron, Randy Q.; Ravelli, Angelo; Passarelli, Chiara; Pardeo, Manuela; Pisaneschi, Elisa; Novelli, Antonio; De Benedetti, Fabrizio; Bracaglia, Claudia; Bracaglia, Claudia; Marafon, Denise Pires; Caiello, Ivan; de Graaf, Kathy; Guilhot, Florence; Ferlin, Walter; Davi’, Sergio; Schulert, Grant; Ravelli, Angelo; Grom, Alexi A.; Nelson, Robert; de Min, Cristina; De Benedetti, Fabrizio; Holzinger, Dirk; Kessel, Christoph; Fall, Ndate; Grom, Alexei; de Jager, Wilco; Vastert, Sebastiaan; Strippoli, Raffaele; Bracaglia, Claudia; Sundberg, Erik; Horne, Anna; Ehl, Stephan; Ammann, Sandra; Lehmberg, Kai; De Benedetti, Fabrizio; Beutel, Karin; Foell, Dirk; Minoia, Francesca; Horne, AnnaCarin; Bovis, Francesca; Davì, Sergio; Pagani, Laura; Espada, Graciela; Gao, Yi-jin; Insalaco, Antonella; Lehmberg, Kai; Sanner, Helga; Shenoi, Susan; Weitzman, Sheila; Ruperto, Nicolino; Martini, Alberto; Cron, Randy Q.; Ravelli, Angelo; Prencipe, Giusi; Caiello, Ivan; Pascarella, Antonia; Bracaglia, Claudia; Ferlin, Walter G.; Chatel, Laurence; Strippoli, Raffaele; de Min, Cristina; De Benedetti, Fabrizio; Jacqmin, Philippe; De Graaf, Kathy; Ballabio, Maria; Nelson, Robert; Johnson, Zoë; Ferlin, Walter; Lapeyre, Geneviève; de Benedetti, Fabrizio; Cristina, de Min; Wakiguchi, Hiroyuki; Hasegawa, Shunji; Hirano, Reiji; Okazaki, Fumiko; Nakamura, Tamaki; Kaneyasu, Hidenobu; Ohga, Shouichi; Yamazaki, Kazuko; Nozawa, Tomo; Kanetaka, Taichi; Ito, Shuichi; Yokota, Shumpei; McLellan, Kirsty; MacGregor, Ishbel; Martin, Neil; Davidson, Joyce; Kuemmerle-Deschner, Jasmin; Hansmann, Sandra; Wulffraat, Nico; Eikelberg, Andreas; Haug, Iris; Schuller, Sabrina; Benseler, Susanne M.; Nazarova, Liliia S.; Danilko, Kseniia V.; Malievsky, Viktor A.; Viktorova, Tatiana V.; Mauro, Angela; Omoyinmi, Ebun; Barnicoat, Angela; Brogan, Paul; Foley, Charlene; Killeen, Orla; MacDermott, Emma; Veale, Douglas; Foley, Charlene; Killeen, Orla; MacDermott, Emma; Veale, Douglas; Gomes, Sonia Melo; Omoyinmi, Ebun; Hurst, Jane; Canham, Nathalie; Eleftheriou, Despina; Klein, Nigel; Lacassagne, Sandrine; Brogan, Paul; Wiener, Anastasia; Hügle, Boris; Denecke, Bernd; Costa-Filho, Ivan; Haas, Johannes Peter; Tenbrock, Klaus; Popp, David; Boltjes, Arjan; Rühle, Frank; Herresthal, Stefanie; de Jager, Wilco; van Wijk, Femke; Schultze, Joachim; Stoll, Monika; Klotz, Luisa; Vogl, Thomas; Roth, Johannes; Quesada-Masachs, Estefania; de la Sierra, Daniel Álvarez; Prat, Marina Garcia; Sánchez, Ana M. Marín; Borrell, Ricardo Pujol; Barril, Sara Marsal; Gallo, Mónica Martínez; Caballero, Consuelo Modesto; Chyzheuskaya, Iryna; Byelyaeva, Lyudmyla M.; Filonovich, Rostislav M.; Khrustaleva, Helena K.; Zajtseva, Larisa I.; Yuraga, Tamara M.; Chyzheuskaya, Iryna; Byelyaeva, Lyudmyla M.; Filonovich, Rostislav M.; Khrustaleva, Helena K.; Zajtseva, Larisa I.; Yuraga, Tamara M.; Giner, Thomas; Hackl, Lukas; Albrecht, Julia; Würzner, Reinhard; Brunner, Juergen; Pastore, Serena; Minute, Marta; Parentin, Fulvio; Tesser, Alessandra; Nocerino, Agostino; Taddio, Andrea; Tommasini, Alberto; Nørgaard, Mette; Herlin, Troels; Alberdi-Saugstrup, Mikel; Zak, Marek S.; Nielsen, Susan M.; Herlin, Troels; Nordal, Ellen; Berntson, Lillemor; Fasth, Anders; Rygg, Marite; Müller, Klaus G.; Avramovič, Mojca Zajc; Dolžan, Vita; Toplak, Nataša; Avčin, Tadej; Ruperto, N.; Lovell, D. J.; Wallace, C.; Toth, M.; Foeldvari, I.; Bohnsack, J.; Milojevic, D.; Rabinovich, C.; Kingsbury, D.; Marzan, K.; Quartier, P.; Minden, K.; Chalom, E.; Horneff, G.; Kuester, R. M.; Dare, J.; Heinrich, M.; Kupper, H.; Kalabic, J.; Martini, A.; Brunner, H. I.; Consolaro, Alessandro; Horneff, Gerd; Burgos-Vargas, Ruben; Constantin, Tamas; Foeldvari, Ivan; Vojinovic, Jelena; Dehoorne, Joke; Panaviene, Violeta; Susic, Gordana; Stanevica, Valda; Kobusinska, Katarzyna; Zuber, Zbigniew; Mouy, Richard; Rumba-Rozenfelde, Ingrida; Dolezalova, Pavla; Job-Deslandre, Chantal; Wulffraat, Nico; Pederson, Ronald; Bukowski, Jack; Hinnershitz, Tina; Vlahos, Bonnie; Martini, Alberto; Ruperto, Nicolino; Keskitalo, Paula; Kangas, Salla; Vähäsalo, Paula; Valencia, Raul A. Chavez; Martino, David; Munro, Jane; Ponsonby, Anne-Louise; Chiaroni-Clarke, Rachel; Meyer, Braydon; Allen, Roger C.; Akikusa, Jonathan D.; Craig, Jeffrey M.; Saffrey, Richard; Ellis, Justine A.; Davì, Sergio; Minoia, Francesca; Horne, AnnaCarin; Wulffraat, Nico; Wouters, Carine; Wallace, Carol; Uziel, Yosef; Sterba, Gary; Schneider, Rayfel; Russo, Ricardo; Ramanan, Athimalaipet V.; Schmid, Jana Pachlopnik; Ozen, Seza; Nichols, Kim E; Miettunen, Paivi; Lovell, Daniel J.; Lehmberg, Kai; Kitoh, Toshiyuki; Khubchandani, Raju; Ilowite, Norman T.; Henter, Jan-Inge; Grom, Alexei A; De Benedetti, Fabrizio; Behrens, Edward M.; Avcin, Tadej; Aricò, Maurizio; Martini, Alberto; Ruperto, Nicolino; Cron, Randy Q.; Ravelli, Angelo; Grevich, Sriharsha; Lee, Peggy; Ringold, Sarah; Leroux, Brian; Leahey, Hannah; Yuasa, Megan; Foster, Jessica; Sokolove, Jeremy; Lahey, Lauren; Robinson, William; Newson, Joshua; Stevens, Anne; Shoop, Stephanie J. W.; Hyrich, Kimme L.; Verstappen, Suzanne M. M.; Thomson, Wendy; McDonagh, Janet E.; Beukelman, Timothy; Kimura, Yuki; Natter, Marc; Ilowite, Norm; Mieszkalski, Kelly; Burrell, Grendel; Best, Brian; Bristow, Helen; Carr, Shannon; Dennos, Anne; Kaufmann, Rachel; Schanberg, Laura; Parissenti, Ilaria; Insalaco, Antonella; Taddio, Andrea; Mauro, Angela; Pardeo, Manuela; Ricci, Francesca; Simonini, Gabriele; Cattalini, Marco; Montesano, Paola; Parissenti, Ilaria; Ricci, Francesca; Bonafini, Barbara; Medeghini, Veronica; Lancini, Francesca; Cattalini, Marco; Gerbaux, Margaux; Lê, Phu-Quoc; Goffin, Laurence; Badot, Valérie; La, Céline; Caspers, Laure; Willermain, François; Ferster, Alina; Ceci, Maria; Licciardi, Francesco; Turco, Marco; Santarelli, Francesca; Montin, Davide; Toppino, Claudia; Maggio, Maria Cristina; Alizzi, Clotilde; Papia, Bruno; Vergara, Beatrice; Corpora, Umberto; Messina, Luca; Corsello, Giovanni; Tsinti, Maria; Dermentzoglou, Vasiliko; Tziavas, Panagiotis; Tsitsami, Elena; Perica, Marija; Vidović, Mandica; Lamot, Lovro; Harjaček, Miroslav; Bukovac, Lana Tambić; Çakan, Mustafa; Ayaz, Nuray Aktay; Keskindemirci, Gonca; Miettunen, Paivi; Lang, Michael; Laing, Catherine; Benseler, Susanne; Gerschman, Tommy; Luca, Nadia; Schmeling, Heinrike; Dropol, Anastasia; Taiani, Jaymi; Johnson, Nicole; Rusted, Brian; Nalbanti, Panagiota; Trachana, Maria; Pratsidou, Polyxeni; Pardalos, Grigoris; Tzimouli, Vasiliki; Taparkou, Anna; Stavrakidou, Maria; Papachristou, Fotios; Kanakoudi-Tsakalidou, Florence; Bale, Peter; Robinson, Emily; Palman, Jason; Pilkington, Clarissa; Ralph, Elizabeth; Gilmour, Kimberly; Heard, Clare; Wedderburn, Lucy R.; Carlomagno, Raffaella; Barrense-Dias, Yara; Gregory, Antonarakis; Amira, Dhouib; Paolo, Scolozzi; Sylviane, Hanquinet; Michaël, Hofer; Panko, Nataliya; Shokry, Salah; Rakovska, Liudmila; Pino, Sally; Diaz-Maldonado, Adriana; Guarnizo, Pilar; Torreggiani, Sofia; Cressoni, Paolo; Garagiola, Umberto; Di Landro, Giancarla; Farronato, Giampietro; Corona, Fabrizia; Filocamo, Giovanni; Shenoi, Susan; Bell, Samantha; Bhatti, Parveen; Nelson, Lee; Mueller, Beth A.; Simon, T. A.; Baheti, A.; Ray, N.; Guo, Z.; Ruperto, Nicolino; Brunner, Hermine I.; Hazra, Anasuya; Stock, Thomas; Wang, Ronnie; Mebus, Charles; Alvey, Christine; Lamba, Manisha; Krishnaswami, Sriram; Conte, Umberto; Wang, Min; Tzaribachev, Nikolay; Foeldvari, Ivan; Horneff, Gerd; Kingsbury, Daniel; Koskova, Elena; Smolewska, Elzbieta; Vehe, Richard K.; Zuber, Zbigniew; Martini, Alberto; Lovell, Daniel; Kubota, Tomohiro; Shimizu, Masaki; Yasumura, Junko; Nakagishi, Yasuo; Kizawa, Toshitaka; Yashiro, Masato; Wakiguchi, Hiroyuki; Yamatou, Tsuyoshi; Yamasaki, Yuichi; Takei, Syuji; Kawano, Yoshifumi; Nykvist, Ulrika Järpemo; Magnusson, Bo; Wicksell, Rikard; Palmblad, Karin; Olsson, Gunnar L.; Ziaee, Vahid; Modaressi, Mohammadreza; Moradinejad, Mohammad-Hassan; Seraya, Valentina; Zholobova, Elena; Vitebskaya, Alisa; Moshe, Veronica; Amarilyo, Gil; Harel, Liora; Hashkes, Phillip J; Mendelson, Amir; Rabinowicz, Noa; Reis, Yonit; Uziel, Yosef; Dāvidsone, Zane; Lazareva, Arina; Šantere, Ruta; Bērziņa, Dace; Staņēviča, Valda; Varnier, Giulia Camilla; Consolaro, Alessandro; Pilkington, Clarissa; Maillard, Susan; Ferrari, Cristina; Zaffarano, Silvia; Martini, Alberto; Ravelli, Angelo; Wienke, Judith; Enders, Felicitas Bellutti; van den Hoogen, Lucas L.; Mertens, Jorre S.; Radstake, Timothy R.; Hotten, Henny G.; Fritsch, Ruth; de Jager, Wilco; Wedderburn, Lucy; Nistala, Kiran; Pilkington, Clarissa; Prakken, Berent; van Royen-Kerkhof, Annet; van Wijk, Femke; Alhemairi, Mohammad; Muzaffer, Mohammed; Van Dijkhuizen, Pieter; Deakin, Claire T.; Simou, Stefania; Wedderburn, Lucy R.; De Iorio, Maria; Wu, Qiong; Amin, Tania; Simou, Stefania; Dossetter, Lee; Wedderburn, Lucy R.; Pilkington, Clarissa; Campanilho-Marques, Raquel; Deakin, Claire; Simou, Stefania; Wedderburn, Lucy R.; Pilkington, Clarissa A.; Rosina, Silvia; Consolaro, Alessandro; van Dijkhuizen, Pieter; Nistala, Kiran; Ruperto, Nicola; Pilkington, Clarissa; Ravelli, Angelo; Soponkanaporn, Sirisucha; Simou, Stefania; Deakin, Claire T.; Wedderburn, Lucy R.; Arıcı, Zehra S.; Tuğcu, Gökçen D.; Batu, Ezgi D.; Sönmez, Hafize E.; Doğru-Ersöz, Deniz; Bilginer, Yelda; Talim, Beril; Kiper, Nural; Özen, Seza; Solyom, Alexander; Hügle, Boris; Makay, Balahan; Magnusson, Bo; Batu, Ezgi; Mitchell, John; Kariminejad, Ariana; Hadipour, Fatemeh; Hadipour, Zahra; Torcoletti, Marta; Agostoni, Carlo; Di Rocco, Maja; Tanpaiboon, Pranoot; Superti-Furga, Andrea; Bonafé, Luisa; Arslan, Nur; Guelbert, Norberto; Kostik, Mikhail; Ehlert, Karoline; Grigelioniene, Giedre; Puri, Ratna; Ozen, Seza; Schuchman, Edward; Malagon, Clara; Gomez, Pilar; Mosquera, Angela C.; Gonzalez, Tatiana; Yepez, Ricardo; Vargas, Camilo; Fernanda, Falcini; Lepri, Gemma; Ferrari, Alessandra; Rigante, Donato; Matucci-Cerinic, Marco; Meini, Antonella; Moneta, Gian Marco; Caiello, Ivan; Marasco, Emiliano; Nicolai, Rebecca; Pardeo, Manuela; Bracaglia, Claudia; Insalaco, Antonella; Bracci-Laudiero, Luisa; De Benedetti, Fabrizio; Kopchak, Olga; Kostik, Mikhail; Mushkin, Alexander; Maletin, Alexey; Makay, Balahan; Batu, Ezgi D.; Hügle, Boris; Arslan, Nur; Solyom, Alexander; Mitchell, John; Schuchman, Edward; Ozen, Seza; Magnusson, Bo; Malagon, Clara; Gomez, Pilar; Mosquera, Catalina; Gonzalez, Tatiana; Yepez, Ricardo; Vargas, Camilo; Amorim, Rita A.; Len, Claudio A.; Molina, Juliana; Moreira, Gustavo; Santos, Flávia H.; Fraga, Melissa; Keppeke, Livia; Silva, Vanessa M.; Hirotsu, Camila; Tufik, Sergio; Terreri, Maria Teresa; Braga, Vinícius L.; Fonseca, Maria Beatriz; Len, Claudio A.; Fraga, Melissa; Schinzel, Vania; Terreri, Maria Teresa R.; Molina, Juliana; Len, Claudio A.; Jorge, Liliana; Guerra, Liana; Santos, Flávia H.; Terreri, Maria Teresa; Junior, Edson Amaro; Fonseca, Maria Beatriz; Braga, Vinícius L.; Len, Claudio A.; Fraga, Melissa; Schinzel, Vania; Terreri, Maria Teresa R.; Alizzi, Clotilde; Maggio, Maria Cristina; Castiglione, Maria Cristina; Tricarico, Alessandra; Corsello, Giovanni; Boulter, Emily; Schultz, Andre; Murray, Kevin; Falcini, Fernanda; Lepri, Gemma; Stagi, Stefano; Bellucci, Eleonora; Matucci-Cerinic, Marco; Grein, Ingrid H. R.; Groot, Noortje; Pileggi, Gecilmara; Pinto, Natália B. F.; de Oliveira, Aline L.; Wulffraat, Nico; Chyzheuskaya, Iryna; Belyaeva, Lyudmila; Filonovich, Rostislav; Khrustaleva, Helena; Zajtseva, Larisa; Ilisson, Jaanika; Pruunsild, Chris; Kostik, Mikhail; Kopchak, Olga; Mushkin, Alexander; Maletin, Alexey; Gilliaux, Olivier; Corazza, Francis; Lelubre, Christophe; Ferster, Alina; Suárez, Raul Gutiérrez; Morel, Zoilo; Espada, Graciela; Malagon, Clara; C, Claudia Saad-Magalhães; Lira, Luis; Ladino, Mabel; Eraso, Ruth; Arroyo, Ivonne; Sztajnbok, Flavio; Silva, Clovis; Rose, Carlos; on behalf of On behalf of the UK JSLE Cohort Study; UK JSLE study group supported by the National Institute of Health Research Clinical Research Network; BIKER collaborative group; on behalf of Italian Pediatric Rheumatology Study Group; Drug Delivery Group; Juvenile Inflammatory Rheumatism (JIR) Cohort; ICON study group; on behalf of PRINTO and Eurofever Registry; on behalf of PRINTO and Eurofever Project; the Nordic Study Group of Pediatric Rheumatology (NoSPeR); GRANT Medical University, Sofia 68/2015; Single Hub and Access point for paediatric Rheumatology in Europe (SHARE); Nordic Study Group of Pediatric Rheumatology (NoSPeR); on behalf of PRINTO and PRCSG; CAPS; for the CARRA Registry Investigators; Juvenile Dermatomyositis Research Group and European Federation of Immunological Societies; Juvenile Dermatomyositis Research Group (JDRG); on behalf of Juvenile Dermatomyositis Research Group (JDRG); on behalf of the UK Juvenile Dermatomyositis Research Group (JDRG); GRIP study group; GRIP study group; on behalf of PANLAR Pediatric Rheumatology Study Group; PANLAR Pediatric Rheumatology Study Group
nonsense mutation (c.622C > T/p.Gln208Ter) ...
... type foster mothers. Only about 17% of the  homozygous 
Replacement of connexin43 by connexin26 in transgenic mice leads to dysfunctional reproductive organs and slowed ventricular conduction in the heart
Replacement of connexin43 by connexin26 in transgenic mice leads to dysfunctional reproductive organs and slowed ventricular conduction in the heart
Winterhager, Elke; Pielensticker, Nicole; Freyer, Jennifer; Ghanem, Alexander; Schrickel, Jan W; Kim, Jung-Sun; Behr, Rüdiger; Grümmer, Ruth; Maass, Karen; Urschel, Stephanie; Lewalter, Thorsten; Tiemann, Klaus; Simoni, Manuela; Willecke, Klaus
connexin43 knock-in connexin26 mice ...
... 10.5/F/W t(8;21) (AML-M2) t(11;16) 0/18/  homozygous 
Polymorphisms in the MLL breakpoint cluster region (BCR)
Polymorphisms in the MLL breakpoint cluster region (BCR)
Echlin-Bell, Deborah R.; Smith, Lydia L.; Li, Loretta; Strissel, Pamela L.; Strick, Reiner; Gupta, Vandana; Banerjee, Jhula; Larson, Richard; Relling, Mary V.; Raimondi, Susan C.; Hayashi, Yasuhide; Taki, Tomohiko; Zeleznik-Le, Nancy; Rowley, Janet D.
-(GAA)5/5 UC-2 17/F/B Hodgkin's disease ...
... atherosclerosis. Methods Participants  Homozygous 
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Mosig, Sandy; Rennert, Knut; Büttner, Petra; Krause, Siegfried; Lütjohann, Dieter; Soufi, Muhidien; Heller, Regine; Funke, Harald
and heterozygous FH patients with ...
... augmented contractile response in humans  homozygous 
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
Huntgeburth, Michael; La Rosée, Karl; ten Freyhaus, Henrik; Böhm, Michael; Schnabel, Petra; Hellmich, Martin; Rosenkranz, Stephan
for the Arg389 allele. ...
... ears and kidneys of Eya3 mutant mice.  Homozygous 
Pleiotropic effects in Eya3knockout mice
Pleiotropic effects in Eya3knockout mice
Söker, Torben; Dalke, Claudia; Puk, Oliver; Floss, Thomas; Becker, Lore; Bolle, Ines; Favor, Jack; Hans, Wolfgang; Hölter, Sabine M; Horsch, Marion; Kallnik, Magdalena; Kling, Eva; Moerth, Corinna; Schrewe, Anja; Stigloher, Christian; Topp, Stefanie; Gailus-Durner, Valerie; Naton, Beatrix; Beckers, Johannes; Fuchs, Helmut; Ivandic, Boris; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wurst, Wolfgang; Bally-Cuif, Laure; de Angelis, Martin Hrabé; Graw, Jochen
mutants displayed decreased bone mineral ...
... compromise juvenile survival. A scan for  homozygous 
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
Schwarzenbacher, Hermann; Burgstaller, Johann; Seefried, Franz R.; Wurmser, Christine; Hilbe, Monika; Jung, Simone; Fuerst, Christian; Dinhopl, Nora; Weissenböck, Herbert; Fuerst-Waltl, Birgit; Dolezal, Marlies; Winkler, Reinhard; Grueter, Oskar; Bleul, Ulrich; Wittek, Thomas; Fries, Ruedi; Pausch, Hubert
haplotype deficiency revealed a short ...
... active cTBS in participants that were  homozygous 
Is prepulse modification altered by continuous theta burst stimulation? DAT1 genotype and motor threshold interact on prepulse modification following brain stimulation
Is prepulse modification altered by continuous theta burst stimulation? DAT1 genotype and motor threshold interact on prepulse modification following brain stimulation
Notzon, S.; Vennewald, N.; Gajewska, A.; Klahn, A. L.; Diemer, J.; Winter, B.; Fohrbeck, I.; Arolt, V.; Pauli, P.; Domschke, K.; Zwanzger, P.
carriers of the 10-repeat-allele of the ...
... −0.77% [−8.4 mmol/mol], p < 0.0001;  homozygous 
Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin
Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin
Zimdahl, Heike; Ittrich, Carina; Graefe-Mody, Ulrike; Boehm, Bernhard O.; Mark, Michael; Woerle, Hans-Juergen; Dugi, Klaus A.
risk variant carriers TT [n = 73]: −0.57% ...
... been described before. We here report a  homozygous 
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
Geis, Tobias; Marquard, Klaus; Rödl, Tanja; Reihle, Christof; Schirmer, Sophie; Kalle, Thekla; Bornemann, Antje; Hehr, Ute; Blankenburg, Markus
novel DAG1 missense mutation c.2006G>T ...
... caused a sudden accumulation of  homozygous 
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
Schwarzenbacher, Hermann; Wurmser, Christine; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C.; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert
calves with dwarfism. ...
... and two in ALS2. Thirteen mutations are  homozygous 
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Herzfeld, Thilo; Wolf, Nicole; Winter, Pia; Hackstein, Holger; Vater, Daniel; Müller, Ulrich
and have occurred in children of ...
... indicate novel alleles. HapMap SNPs  homozygous 
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Taudien, Stefan; Szafranski, Karol; Felder, Marius; Groth, Marco; Huse, Klaus; Raffaelli, Francesca; Petzold, Andreas; Zhang, Xinmin; Rosenstiel, Philip; Hampe, Jochen; Schreiber, Stefan; Platzer, Matthias
for the variant allele of the CTRL and ...
... in TIRAP/Mal and TLR4 and patients  homozygous 
Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts
Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts
Kumpf, Oliver; Giamarellos-Bourboulis, Evangelos J; Koch, Alexander; Hamann, Lutz; Mouktaroudi, Maria; Oh, Djin-Ye; Latz, Eicke; Lorenz, Eva; Schwartz, David A; Ferwerda, Bart; Routsi, Christina; Skalioti, Chryssanthi; Kullberg, Bart-Jan; van der Meer, Jos WM; Schlag, Peter M; Netea, Mihai G; Zacharowski, Kai; Schumann, Ralf R
for the TIRAP/Mal SNP had a significantly ...
... promoter was able to restore growth of  homozygous 
Requirement of proline synthesis during Arabidopsis reproductive development
Requirement of proline synthesis during Arabidopsis reproductive development
Funck, Dietmar; Winter, Gudrun; Baumgarten, Lukas; Forlani, Giuseppe
p5cr mutant embryos. ...
... many insertion lines that are either  homozygous 
Large-scale insertional mutagenesis of a coleopteran stored grain pest, the red flour beetle Tribolium castaneum, identifies embryonic lethal mutations and enhancer traps
Large-scale insertional mutagenesis of a coleopteran stored grain pest, the red flour beetle Tribolium castaneum, identifies embryonic lethal mutations and enhancer traps
Trauner, Jochen; Schinko, Johannes; Lorenzen, Marcé D; Shippy, Teresa D; Wimmer, Ernst A; Beeman, Richard W; Klingler, Martin; Bucher, Gregor; Brown, Susan J
lethal, ...