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American Journal of Human Genetics|May 16, 2020
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal MyopathyJianwen Deng, Jiaxi Yu, Pidong Li, et al.American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.American Journal of Human Genetics|May 11, 2020
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare PopulationRidge Dershem, Caroline M Gorvin, Raghu P R Metpally, et al.American Journal of Human Genetics|August 5, 2022
"Choice of law" in precision medicine researchLaura M Beskow, Leslie E WolfAmerican Journal of Human Genetics|August 5, 2022
Multi-ancestry fine-mapping improves precision to identify causal genes in transcriptome-wide association studiesZeyun Lu, Shyamalika Gopalan, Dong Yuan, et al.American Journal of Human Genetics|August 5, 2022
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.American Journal of Human Genetics|August 5, 2022
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neuronsAlena Kozlova, Siwei Zhang, Alex V Kotlar, et al.American Journal of Human Genetics|June 1, 1987
Segregation analysis of low levels of high-density lipoprotein cholesterol in the collaborative Lipid Research Clinics Program Family StudyK D Bucher, E B Kaplan, K K Namboodiri, et al.American Journal of Human Genetics|May 1, 1981
New variants of alpha 1-antitrypsin: comparison of Pi typing techniquesD W CoxAmerican Journal of Human Genetics|November 1, 1981
The modes of inheritance of insulin-dependent diabetes mellitus or the genetics of IDDM, no longer a nightmare but still a headacheJ I RotterPageof 979