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American Journal of Human Genetics|May 4, 2019
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic HeterogeneityCassandre Labelle-Dumais, Vera Schuitema, Genki Hayashi, et al.American Journal of Human Genetics|March 1, 1986
The origin of 45,X malesA de la Chapelle, D C Page, L Brown, et al.American Journal of Human Genetics|April 30, 2019
Somatic PDGFRB Activating Variants in Fusiform Cerebral AneurysmsYigit Karasozen, Joshua W Osbun, Carolina Angelica Parada, et al.American Journal of Human Genetics|July 1, 1978
Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and deutan)A Rinaldi, M Velivasakis, B Latte, et al.American Journal of Human Genetics|July 1, 1978
Alpha1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusingF Kueppers, M J ChristophersonAmerican Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.American Journal of Human Genetics|July 24, 2018
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function AllelesZeynep Coban-Akdemir, Janson J White, Xiaofei Song, et al.American Journal of Human Genetics|May 1, 1985
Chromosome-specific organization of human alpha satellite DNAH F WillardAmerican Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.American Journal of Human Genetics|August 14, 2018
A One-Penny Imputed Genome from Next-Generation Reference PanelsBrian L Browning, Ying Zhou, Sharon R BrowningPageof 979