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American Journal of Human Genetics|May 1, 1987
Hypopigmentation in the Prader-Willi syndromeG L Wiesner, C M Bendel, D P Olds, et al.American Journal of Human Genetics|June 17, 2022
Leveraging the local genetic structure for trans-ancestry association mappingJiashun Xiao, Mingxuan Cai, Xinyi Yu, et al.American Journal of Human Genetics|July 1, 1986
Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotypeJ Overhauser, M S Golbus, S A Schonberg, et al.American Journal of Human Genetics|July 1, 1986
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblottingL Simard, W E O'Brien, R R McInnesAmerican Journal of Human Genetics|August 1, 1986
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutationA E Kulozik, J S Wainscoat, G R Serjeant, et al.American Journal of Human Genetics|August 1, 1986
Translocation of the nucleolus organizer region to the human X chromosomeG Stetten, B Sroka, M Schmidt, et al.American Journal of Human Genetics|July 9, 2022
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failureAntoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, et al.American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.American Journal of Human Genetics|May 21, 2019
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine ResearchCarol R Horowitz, Lori A Orlando, Anne M Slavotinek, et al.American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.Pageof 979