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Blood|August 3, 2013
Genetic loss of SH2B3 in acute lymphoblastic leukemiaArianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, et al.Fetal Diagnosis and Therapy|May 23, 2015
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)Lea Tuzovic, Sha Tang, Russell S Miller, et al.The Journal of Clinical Investigation|January 3, 2015
Differentiation of hypothalamic-like neurons from human pluripotent stem cellsLiheng Wang, Kana Meece, Damian J Williams, et al.Journal of Medical Genetics|October 12, 2012
De novo copy number variants are associated with congenital diaphragmatic herniaLan Yu, Julia Wynn, Lijiang Ma, et al.The Journal of Clinical Investigation|March 12, 2011
A mutation in the leptin receptor is associated with Entamoeba histolytica infection in childrenPriya Duggal, Xiaoti Guo, Rashidul Haque, et al.The Journal of Clinical Investigation|February 25, 2021
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neuronsLiheng Wang, Yang Liu, George Stratigopoulos, et al.Communications Biology|August 2, 2022
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiencyBryan J González, Haoquan Zhao, Jacqueline Niu, et al.American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.American Journal of Human Genetics|March 5, 2016
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyTamar Harel, Gozde Yesil, Yavuz Bayram, et al.American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.Pageof 7