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The Journal of Molecular Diagnostics : JMD|August 13, 2021
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative ProjectEmma Wilcox, Steven M Harrison, Edward Lockhart, et al.Developmental Biology|November 16, 2010
Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesisPriya Choudhry, Deepa Joshi, Birgit Funke, et al.Current Protocols in Human Genetics|April 12, 2011
Targeted sequencing using Affymetrix CustomSeq ArraysPolakit Teekakirikul, Stephanie Cox, Birgit Funke, et al.Clinical Chemistry|January 3, 2025
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and ChallengesLaura K Conlin, Melissa J Landrum, Robert R Freimuth, et al.Genome Medicine|November 23, 2019
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVarSteven M Harrison, Heidi L RehmThe Journal of Urology|April 1, 2014
DNA copy number variations in patients with persistent cloacaSteven M Harrison, Casey Seideman, Linda A BakerAmerican Journal of Obstetrics and Gynecology|August 24, 2002
Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosisSusan J Gross, Jose C Ferreira, Bernice Morrow, et al.BMC Medical Genetics|July 3, 2013
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyHeather M McLaughlin, Melissa A Kelly, Pamela P Hawley, et al.Current Protocols in Human Genetics|September 4, 2019
Overview of Specifications to the ACMG/AMP Variant Interpretation GuidelinesSteven M Harrison, Leslie G Biesecker, Heidi L RehmSchizophrenia Research|November 1, 2006
DTNBP1 genotype influences cognitive decline in schizophreniaKatherine E Burdick, Terry E Goldberg, Birgit Funke, et al.Pageof 10