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EMBO Molecular Medicine|November 1, 2017
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survivalVincent Michel, Kevin T Booth, Pranav Patni, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2019
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.The Annals of Otology, Rhinology, and Laryngology|November 5, 2015
Audioprofile Surfaces: The 21st Century AudiogramKyle R Taylor, Kevin T Booth, Hela Azaiez, et al.Clinical Genetics|March 13, 2021
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in IranMarzieh Mohseni, Mojgan Babanejad, Kevin T Booth, et al.Human Genetics|May 9, 2020
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populationsW Daniel Walls, Hideaki Moteki, Taylor R Thomas, et al.Human Mutation|October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossAndrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.Journal of Medical Genetics|October 9, 2015
Characterising the spectrum of autosomal recessive hereditary hearing loss in IranChristina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, et al.European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, et al.Pageof 5