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American Journal of Human Genetics|April 19, 2011
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, et al.American Journal of Human Genetics|November 1, 1990
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseH Sakuraba, A Oshima, Y Fukuhara, et al.American Journal of Human Genetics|July 19, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich, Anna Benet-Pagès, Walter Struhal, et al.American Journal of Human Genetics|July 19, 2011
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosisPanagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, et al.American Journal of Human Genetics|June 7, 2011
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese populationYi Shi, Jia Qu, Dingding Zhang, et al.American Journal of Human Genetics|June 14, 2011
The orphan disease networksMinlu Zhang, Cheng Zhu, Alexis Jacomy, et al.American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.American Journal of Human Genetics|July 9, 2011
Rare-variant association testing for sequencing data with the sequence kernel association testMichael C Wu, Seunggeun Lee, Tianxi Cai, et al.American Journal of Human Genetics|October 1, 1990
Thyroid antibodies as a risk factor for Down syndrome and other trisomiesC P Torfs, B J van den Berg, F W Oechsli, et al.American Journal of Human Genetics|April 5, 2011
Tobacco-smoking-related differential DNA methylation: 27K discovery and replicationLutz P Breitling, Rongxi Yang, Bernhard Korn, et al.Pageof 979