نتایج جستجو برای: tmc1 gene
تعداد نتایج: 1141439 فیلتر نتایج به سال:
Journal:
:Biophysical Journal
2015
Journal:
:Molecular Therapy
2019
2012
Oscar Diaz-Horta
Duygu Duman
Joseph Foster
Aslı Sırmacı
Michael Gonzalez
Nejat Mahdieh
Nikou Fotouhi
Mortaza Bonyadi
Filiz Başak Cengiz
Ibis Menendez
Rick H. Ulloa
Yvonne J. K. Edwards
Stephan Züchner
Susan Blanton
Mustafa Tekin
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20 unrelated multiplex consanguineous families ...
Journal:
:Proceedings of the National Academy of Sciences
2019
Journal:
:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2017
Journal:
:Cell Reports
2015
Journal:
:Annals of Otology, Rhinology & Laryngology
2010
Journal:
:Journal of Human Genetics
2009
Journal:
:Scientific Journal of Genetics and Gene Therapy
2016
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