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American Journal of Human Genetics|February 4, 2018
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational ApproachesLucia Guidugli, Hermela Shimelis, David L Masica, et al.American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.American Journal of Human Genetics|February 4, 2018
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion SyndromeJiani Yin, Wu Chen, Eugene S Chao, et al.American Journal of Human Genetics|April 1, 1986
Induction of fragile sites in fibroblastsG R Sutherland, E BakerAmerican Journal of Human Genetics|May 1, 1986
A family with Huntington disease and reciprocal translocation 4;5U G Froster-Iskenius, M R Hayden, H S Wang, et al.American Journal of Human Genetics|November 1, 1985
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4T L Yang-Feng, G Floyd-Smith, M Nemer, et al.American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.American Journal of Human Genetics|March 13, 2018
Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled TrialKatie L Lewis, Kendall L Umstead, Jennifer J Johnston, et al.American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.Pageof 979