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American Journal of Human Genetics|October 9, 2021
The risks of using unapproved gene symbolsBryony Braschi, Ruth L Seal, Susan Tweedie, et al.American Journal of Human Genetics|October 9, 2021
The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are headingGeoffrey Ginsburg, Michelle Penny, W Gregory Feero, et al.American Journal of Human Genetics|April 7, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiationMarion Coolen, Nami Altin, Karthyayani Rajamani, et al.American Journal of Human Genetics|January 1, 1985
The natural history of homocystinuria due to cystathionine beta-synthase deficiencyS H Mudd, F Skovby, H L Levy, et al.American Journal of Human Genetics|May 3, 2022
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence dataLe Huang, Jonathan D Rosen, Quan Sun, et al.American Journal of Human Genetics|September 1, 1985
Chromosomal localization of the human elastin geneB S Emanuel, L Cannizzaro, N Ornstein-Goldstein, et al.American Journal of Human Genetics|September 1, 1985
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiencyK Tani, T Takizawa, A YoshidaAmerican Journal of Human Genetics|July 27, 2022
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosisHugo Lemoine, Loann Raud, François Foulquier, et al.American Journal of Human Genetics|May 1, 1985
Genetic control of immune response to the L-Glu, L-Lys, L-Phe terpolymer in manM M Chan, W B Bias, S H Hsu, et al.American Journal of Human Genetics|January 1, 1985
Detection of genetic heterogeneity between families of insulin-dependent diabetes mellitus patients using linkage analysisE L Harris, D K Wagener, J S Dorman, et al.Pageof 979