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The Journal of Experimental Medicine|July 27, 2018
Tle corepressors are differentially partitioned to instruct CD8+ T cell lineage choice and identityShaojun Xing, Peng Shao, Fengyin Li, et al.Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assaysXueyang Pan, Albert N Alvarez, Mengqi Ma, et al.Elife|December 11, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assaysXueyang Pan, Albert N Alvarez, Mengqi Ma, et al.Blood|February 27, 2008
Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemiasWoo Jae Kim, Ross A Okimoto, Louise E Purton, et al.American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.Genes, Chromosomes & Cancer|July 15, 2005
Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemiaDavid A Sweetser, Andrew J Peniket, Christina Haaland, et al.American Journal of Human Genetics|December 20, 2025
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient populationJessica I Gold, Yehuda Elkaim, Nina B Gold, et al.Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.Pageof 6