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Frontiers in Immunology|November 23, 2020
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ TherapyLeidy C Merselis, Shirley Y Jiang, Stanley F Nelson, et al.Archives of Iranian Medicine|February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior ChangeAbbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.Science (New York, N.Y.)|August 10, 2013
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan functionTakako Yoshida-Moriguchi, Tobias Willer, Mary E Anderson, et al.Glycobiology|February 17, 2018
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular featuresHideyuki Takeuchi, Derek Wong, Michael Schneider, et al.Genome Biology|October 12, 2010
Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMANils Homer, Stanley F NelsonHuman Molecular Genetics|February 26, 2015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defectsCalista K L Ng, Mohammad Shboul, Valerio Taverniti, et al.American Journal of Medical Genetics. Part A|June 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathyLucy McNamee, Kelly Schoch, Alden Huang, et al.Nature Genetics|May 15, 2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1Carine Bonnard, Anna C Strobl, Mohammad Shboul, et al.BMC Medical Genomics|June 15, 2018
Calculating the statistical significance of rare variants causal for Mendelian and complex disordersAliz R Rao, Stanley F NelsonPageof 32