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... PCCA c.425G > A(p. Gly142Asp) Founder  Homozygous 
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Alfadhel, Majid; Benmeakel, Mohammed; Hossain, Mohammad Arif; Al Mutairi, Fuad; Al Othaim, Ali; Alfares, Ahmed A.; Al Balwi, Mohammed; Alzaben, Abdullah; Eyaid, Wafaa
, missense c.350G > A (p.Gly117Asp) ...
... 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 ...
... Bonferroni correction (RANKL, rs4531631:  homozygous 
Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
Wang, Fengyu; Wang, Haili; Wang, Lina; Zhou, Shiyuan; Chang, Mingxiu; Zhou, Jiping; Dou, Yongheng; Wang, Yanli; Shi, Xiangdong
, AA vs. ...
... capture in a familial case identified a  homozygous 
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Alazami, Anas M.; Al-Qattan, Sarah M.; Faqeih, Eissa; Alhashem, Amal; Alshammari, Muneera; Alzahrani, Fatema; Al-Dosari, Mohammed S.; Patel, Nisha; Alsagheir, Afaf; Binabbas, Bassam; Alzaidan, Hamad; Alsiddiky, Abdulmonem; Alharbi, Nasser; Alfadhel, Majid; Kentab, Amal; Daza, Riza M.; Kircher, Martin; Shendure, Jay; Hashem, Mais; Alshahrani, Saif; Rahbeeni, Zuhair; Khalifa, Ola; Shaheen, Ranad; Alkuraya, Fowzan S.
truncating variant in a novel and ...
... 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 ...
... selection (MAS), those plants that were  homozygous 
Introgression of acylsugar chemistry QTL modifies the composition and structure of acylsugars produced by high-accumulating tomato lines
Introgression of acylsugar chemistry QTL modifies the composition and structure of acylsugars produced by high-accumulating tomato lines
Smeda, John R.; Schilmiller, Anthony L.; Last, Robert L.; Mutschler, Martha A.
for the majority of the five CU071026 S. ...
... heterozygous (*28/*1, *6/*1) (41.1 %), and  homozygous 
UDP-glucuronosyltransferase 1A1*6 and *28 polymorphisms as indicators of initial dose level of irinotecan to reduce risk of neutropenia in patients receiving FOLFIRI for colorectal cancer
UDP-glucuronosyltransferase 1A1*6 and *28 polymorphisms as indicators of initial dose level of irinotecan to reduce risk of neutropenia in patients receiving FOLFIRI for colorectal cancer
Miyata, Yoshinori; Touyama, Tetsuo; Kusumi, Takaya; Morita, Yoshitaka; Mizunuma, Nobuyuki; Taniguchi, Fumihiro; Manabe, Mitsuaki
(*28/*28, *6/*6, *28/*6) (8.which are ...
... peritonitis are the most frequent signs of  homozygous 
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey
Kilinc, Metin; Ganiyusufoglu, Eda; Sager, Hatice; Celik, Ahmet; Olgar, Seref; Cetin, Gozde Yildirim; Davutoglu, Mehmet; Altunoren, Orcun
M694V and combine heterozygous mutations. ...
... carrying the heterozygous (AG) and  homozygous 
Impact of CYP3A4*18 and CYP3A5*3 Polymorphisms on Imatinib Mesylate Response Among Chronic Myeloid Leukemia Patients in Malaysia
Impact of CYP3A4*18 and CYP3A5*3 Polymorphisms on Imatinib Mesylate Response Among Chronic Myeloid Leukemia Patients in Malaysia
Maddin, Najlaa; Husin, Azlan; Gan, Siew Hua; Aziz, Baba Abdul; Ankathil, Ravindran
variant (GG) genotype of CYP3A5*3 were ...
... and T for SMN2) [7, 8]. Patients with a  homozygous 
New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy
Liu, Zhidai; Zhang, Penghui; He, Xiaoyan; Liu, Shan; Tang, Shi; Zhang, Rong; Wang, Xinbin; Tan, Junjie; Peng, Bin; Jiang, Li; Hong, Siqi; Zou, Lin
deletion of SMN1 and a high SMN2 copy ...
... without PTEN protein by IHC, 15 had  homozygous 
In prostate cancer needle biopsies, detections of PTEN loss by fluorescence in situ hybridization (FISH) and by immunohistochemistry (IHC) are concordant and show consistent association with upgrading
In prostate cancer needle biopsies, detections of PTEN loss by fluorescence in situ hybridization (FISH) and by immunohistochemistry (IHC) are concordant and show consistent association with upgrading
Picanço-Albuquerque, C. G.; Morais, C. L.; Carvalho, F. L. F.; Peskoe, S. B.; Hicks, J. L.; Ludkovski, O.; Vidotto, T.; Fedor, H.; Humphreys, E.; Han, M.; Platz, E. A.; Marzo, A. M.; Berman, D. M.; Lotan, T. L.; Squire, J. A.
or hemizygous PTEN deletion by FISH. ...
... released high-confidence SNP, indel, and  homozygous 
svclassify: a method to establish benchmark structural variant calls
svclassify: a method to establish benchmark structural variant calls
Parikh, Hemang; Mohiyuddin, Marghoob; Lam, Hugo Y. K.; Iyer, Hariharan; Chen, Desu; Pratt, Mark; Bartha, Gabor; Spies, Noah; Losert, Wolfgang; Zook, Justin M.; Salit, Marc
reference genotypes for Coriell DNA sample ...
... Among the PRT, 17/77 (22.1 %) dogs were  homozygous 
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier
Gast, Alana Christina; Metzger, Julia; Tipold, Andrea; Distl, Ottmar
for the mutant KCNJ10 allele and 22/77 ...
... changes in ATM, RAG1, and CIITA;  homozygous 
2016 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference
2016 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference
changes in DCLRE1C and IL7R; and a ...
... the extracts of 2-day-old Canton-S and  homozygous 
A conditional Orco requirement in the somatic cyst cells for maintaining spermatids in a tight bundle in Drosophila testis
A conditional Orco requirement in the somatic cyst cells for maintaining spermatids in a tight bundle in Drosophila testis
Dubey, Pankaj; Joti, Prakash; Ray, Krishanu
orco 1 mutant testes. ...
... into per-exon read depth, RPKM.  Homozygous 
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Charng, Wu-Lin; Karaca, Ender; Coban Akdemir, Zeynep; Gambin, Tomasz; Atik, Mehmed M.; Gu, Shen; Posey, Jennifer E.; Jhangiani, Shalini N.; Muzny, Donna M.; Doddapaneni, Harsha; Hu, Jianhong; Boerwinkle, Eric; Gibbs, Richard A.; Rosenfeld, Jill A.; Cui, Hong; Xia, Fan; Manickam, Kandamurugu; Yang, Yaping; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; El-Hattab, Ayman W.; Lupski, James R.
/hemizygous deletions of exons were ...
... 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. ...
... (x) 1 None 2 KDR, c.1416A>T, p.Q472H  Homozygous 
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease
Marjanovic, Irena; Kostic, Jelena; Stanic, Bojana; Pejanovic, Nadja; Lucic, Bojana; Karan-Djurasevic, Teodora; Janic, Dragana; Dokmanovic, Lidija; Jankovic, Srdja; Vukovic, Nada Suvajdzic; Tomin, Dragica; Perisic, Ognjen; Rakocevic, Goran; Popovic, Milos; Pavlovic, Sonja; Tosic, Natasa
rs1870377 COSM149673 10,894 GNAQ, ...
... Results Frequencies were 0.8 % for  homozygous 
Hypoxia inducible factor-1 alpha and prolinhydroxlase 2 polymorphisms in patients with severe sepsis: a prospective observational trial
Hypoxia inducible factor-1 alpha and prolinhydroxlase 2 polymorphisms in patients with severe sepsis: a prospective observational trial
Höcker, Annika; Rabeling, Miriam; Bick, Alexandra; Cox, Linda; Kreuzer, Maximiliane; Engler, Andrea; Walstein, Kai; Bachmann, Hagen S.; Jöckel, Karl-Heinz; Eisele, Lewin; Adamzik, Michael; Peters, Jürgen; Schäfer, Simon T.
HIF-1α TT-carriers (CT 17.6 %; CC 81.6 %), ...
... of wild type, heterozygous and  homozygous 
Tumor Suppressors in Zebrafish: From TP53 to PTEN and Beyond
Tumor Suppressors in Zebrafish: From TP53 to PTEN and Beyond
Hertog, Jeroen
embryos. ...
... observed among dipterous insects. Instead,  homozygous 
Mechanisms of sex determination and transmission ratio distortion in Aedes aegypti
Mechanisms of sex determination and transmission ratio distortion in Aedes aegypti
Hoang, Kim Phuc; Teo, Tze Min; Ho, Thien Xuan; Le, Vinh Sy
insects show greater mortality among ...
... studied. As a result, we identified that  homozygous 
Immunolocalization of pectic polysaccharides during abscission in pea seeds (Pisum sativum L.) and in abscission less def pea mutant seeds
Immunolocalization of pectic polysaccharides during abscission in pea seeds (Pisum sativum L.) and in abscission less def pea mutant seeds
Lee, YeonKyeong; Ayeh, Kwadwo Owusu; Ambrose, Mike; Hvoslef-Eide, Anne Kathrine
dominant lines (Def/Def) showing ...
... and rice (Oryza sativa L., diploid, 100 %  homozygous 
Marker imputation efficiency for genotyping-by-sequencing data in rice (Oryza sativa) and alfalfa (Medicago sativa)
Marker imputation efficiency for genotyping-by-sequencing data in rice (Oryza sativa) and alfalfa (Medicago sativa)
Nazzicari, Nelson; Biscarini, Filippo; Cozzi, Paolo; Brummer, E. Charles; Annicchiarico, Paolo
, with reference genome). ...
... of MEFV gene mutation: (1) patients with  homozygous 
Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever
Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever
Sezer, Ufuk; Şenyurt, Süleyman Ziya; Özdemir, Eda Çetin; Zengin, Orhan; Üstün, Kemal; Erciyas, Kamile; Kısacık, Bünyamin; Onat, Ahmet Mesut
M694V gene mutation, (2) patients with ...
... stillbirth with Neu-Laxova syndrome and a  homozygous 
On the phenotypic spectrum of serine biosynthesis defects
On the phenotypic spectrum of serine biosynthesis defects
El-Hattab, Ayman W.; Shaheen, Ranad; Hertecant, Jozef; Galadari, Hassan I.; Albaqawi, Badi S.; Nabil, Amira; Alkuraya, Fowzan S.
mutation in PHGDH. ...