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American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.Nature Genetics|November 3, 2014
Trans-ancestry mutational landscape of hepatocellular carcinoma genomesYasushi Totoki, Kenji Tatsuno, Kyle R Covington, et al.American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.Cell|April 24, 2018
Chemistry-First Approach for Nomination of Personalized Treatment in Lung CancerElizabeth A McMillan, Myung-Jeom Ryu, Caroline H Diep, et al.American Journal of Human Genetics|June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceDavut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in DDX3X - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.Cell Reports|January 26, 2016
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT DysregulationMarie-Claude Gingras, Kyle R Covington, David K Chang, et al.Pageof 65