Results 191 to 200 of about 187,376 (271)

Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma-A Pilot Study. [PDF]

Int J Mol Sci
Oelschläger L, Künstner A, Frey F, Leitner T, Leypoldt L, Reimer N, Gebauer N, Bastian L, Weisel K, Sailer VW, Röcken C, Klapper W, Konukiewitz B, Murga Penas EM, Forster M, Schub N, Ahmed HMM, Kirfel J, von Bubnoff NCC, Busch H, Khandanpour C.   +20 more
europepmc   +1 more source

Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease [PDF]

, 2014
Fujun Lin, Fan Bian, Jun Zou, Xiangru Wu, Jianping Shan, Wei Lu, Yao Yao, Gengru Jiang, Daniel P. Gale   +8 more
openalex   +1 more source

Genetic variants associated with physiological and biochemical indicators: A multi-centre whole-exome sequencing study of Chinese healthy participants. [PDF]

Clin Transl Med
Wang Z, Liu Z, Mu G, Xie Q, Zhou S, Wang Z, Cui Y, Xiang Q, IMPACT Study Group.   +8 more
europepmc   +1 more source

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death [PDF]

, 2014
Zhiping Tan, Lixin Xie, Yao Deng, Jin‐Lan Chen, Wei-Zhi Zhang, Jian Wang, Jinfu Yang, Yifeng Yang   +7 more
openalex   +1 more source

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing. [PDF]

Int J Mol Sci
Moon Y, Hong CH, Kim YH, Kim JK, Ye SH, Kang EK, Choi HW, Cho H, Choi H, Lee DE, Choi Y, Kim TM, Heo SG, Han N, Hong KM.   +14 more
europepmc   +1 more source

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing [PDF]

, 2014
Nan Hong, Yanhua Chen, Chen Xie, Baisheng Xu, Hui Huang, Xin Li, Yue-qing Yang, Ying‐Ping Huang, Jianlian Deng, Ming Qi, Yangshun Gu   +10 more
openalex   +1 more source

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer. [PDF]

J Ovarian Res
Chiang YC, Huang HN, Kuo KT, Hwu WL, Lin PH.   +4 more
europepmc   +1 more source

Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

, 2013
R. Frank Kooy
openalex   +2 more sources

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy [PDF]

, 2014
Maria Carolina Ortube, Samuel P. Strom, Stanley F. Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B. Gorin   +5 more
openalex   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]

Diagnostics (Basel)
Fang HH, Lee CL, Chen HJ, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +1 more source