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European Journal of Human Genetics : EJHG|September 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variantsGaby Schobers, Maartje Pennings, Juliette de Vries, et al.Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.Human Genetics|February 28, 2022
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variantsHedwig M Velde, Janine Reurink, Sebastian Held, et al.Familial Cancer|August 13, 2013
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndromeMarry H Nieuwenhuis, C Marleen Kets, Maureen Murphy-Ryan, et al.Journal of Medical Genetics|July 8, 2020
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing lossSuzanne E de Bruijn, Jeroen J Smits, Chang Liu, et al.European Journal of Human Genetics : EJHG|July 16, 2015
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsCelia Zazo Seco, Arnaud P Giese, Sobia Shafique, et al.The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.Journal of Medical Genetics|April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotypeGea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.Pageof 12