Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic heari...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4796320/
https://ncbi.nlm.nih.gov/pubmed/26969326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1648-8
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