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Advances in Bioinformatics|June 18, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus RegionsRongying Tang, Debra O Prosser, Donald R LoveSultan Qaboos University Medical Journal|January 4, 2020
Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology GuidelinesAngela Brown, Mansour Zamanpoor, Donald R Love, et al.Sultan Qaboos University Medical Journal|February 17, 2015
Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 GenesStella Lai, Clare Brookes, Debra O Prosser, et al.Genetics Research International|September 25, 2013
Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutationClare Brookes, Debra O Prosser, Jennifer M Love, et al.BMC Pediatrics|December 29, 2022
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature reviewGraeme E Glass, Shiyas Mohammedali, Bran Sivakumar, et al.Medical Sciences (Basel, Switzerland)|November 4, 2017
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic LaboratoryIvone U S Leong, Alexander Stuckey, Daniele Belluoccio, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 29, 2019
Observations on the Natural History of Camurati-Engelmann DiseasePeter Hughes, Ibrahim Hassan, Lorna Que, et al.Journal of Pediatric Genetics|September 13, 2016
Two Novel GLDC Mutations in a Neonate with Nonketotic HyperglycinemiaSarah L Nickerson, Shanti Balasubramaniam, Philippa A Dryland, et al.Upsala Journal of Medical Sciences|April 4, 2015
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 geneIvone U S Leong, Jennifer Sucich, Debra O Prosser, et al.Circulation. Cardiovascular Genetics|January 8, 2014
Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac deathRenate Marquis-Nicholson, Debra O Prosser, Jennifer M Love, et al.Pageof 2