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American Journal of Human Genetics|May 1, 2018
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in FinlandAlicia R Martin, Konrad J Karczewski, Sini Kerminen, et al.
American Journal of Human Genetics|May 1, 2018
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney DiseaseEmilie Cornec-Le Gall, Rory J Olson, Whitney Besse, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
American Journal of Human Genetics|August 21, 2018
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial DysmorphismYanjie Fan, Wu Yin, Bing Hu, et al.
American Journal of Human Genetics|August 21, 2018
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis PhaseJeffrey D Long, Jong-Min Lee, Elizabeth H Aylward, et al.
American Journal of Human Genetics|May 1, 1986
The immunological detection of a 21-OH deficiency mutation HLA supratypeM S Pollack, B Keenan, F T Christiansen, et al.
American Journal of Human Genetics|May 1, 1977
Molecular abnormality of PI S variant of human alpha1-antitrypsinA Yoshida, C Ewing, M Wessels, et al.
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