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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.Human Molecular Genetics|March 1, 2013
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT NetworkZhao Chen, Hua Tang, Rehan Qayyum, et al.Nature Genetics|November 19, 2013
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbationsKlaus Bønnelykke, Patrick Sleiman, Kasper Nielsen, et al.American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.Plos Pathogens|July 10, 2010
Leprosy and the adaptation of human toll-like receptor 1Sunny H Wong, Sailesh Gochhait, Dheeraj Malhotra, et al.World Journal of Surgery|October 13, 2019
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian RandomizationJamie R Robinson, Robert J Carroll, Lisa Bastarache, et al.Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.Science Advances|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.Nature Communications|October 18, 2018
Phenome-wide association studies across large population cohorts support drug target validationDorothée Diogo, Chao Tian, Christopher S Franklin, et al.HGG Advances|April 26, 2022
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.Pageof 91