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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Bibliografische gegevens
Gepubliceerd in:Hum Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2016
Onderwerpen:
Original Investigation
Online toegang: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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