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Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, et al.American Journal of Human Genetics|November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.European Journal of Human Genetics : EJHG|December 22, 2016
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, et al.Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.Pageof 4