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European Journal of Human Genetics : EJHG|May 1, 2014
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5Celia Zazo Seco, Anne M M Oonk, María Domínguez-Ruiz, et al.Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.Nature Communications|February 18, 2011
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and humanNikoletta Charizopoulou, Andrea Lelli, Margit Schraders, et al.American Journal of Human Genetics|February 9, 2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentMargit Schraders, Kwanghyuk Lee, Jaap Oostrik, et al.Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.Developmental Cell|May 8, 2021
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearingTingfang Chen, Alex M Rohacek, Matthew Caporizzo, et al.Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, 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.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.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.Pageof 5