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Plos One|June 21, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani familiesSobia Shafique, Saima Siddiqi, Margit Schraders, et al.Ear and Hearing|September 26, 2014
Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrumAnne Marthe Maria Oonk, Ramon A C van Huet, Joop M Leijendeckers, et al.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 12, 2021
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 PhenotypeJeroen J Smits, Eline van Beelen, Nicole J D Weegerink, et al.European Journal of Human Genetics : EJHG|June 26, 2008
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, et al.Hearing Research|January 17, 2017
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairmentMieke Wesdorp, Jiddeke M van de Kamp, Erik F Hensen, et al.Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.American Journal of Human Genetics|May 10, 2011
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairmentMargit Schraders, Stefan A Haas, Nicole J D Weegerink, et al.Human Genetics|October 15, 2024
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved casesHedwig M Velde, Maryam Vaseghi-Shanjani, Jeroen J Smits, et al.American Journal of Human Genetics|September 18, 2012
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairmentIsabelle Schrauwen, Sarah Helfmann, Akira Inagaki, et al.Journal of the Association for Research in Otolaryngology : JARO|July 26, 2011
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole J D Weegerink, Margit Schraders, Jaap Oostrik, et al.Pageof 5