Results 121 to 125 of about 514 (125)

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.

Human Molecular Genetics, 2015
Inna Belyantseva, Elisa Martelletti, Andrew Forge   +2 more
exaly  

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

Human Molecular Genetics, 2000
Jeffrey R Bishop, Val C. Sheffield, Monica Andrews   +2 more
exaly  

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1

Human Genetics, 2005
Khushnooda Ramzan, Zubair M Ahmed
exaly  

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

PLoS ONE, 2015
Judit Bene, Andrej Ficek, Lukas Varga
exaly  

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Clinical Genetics, 2013
Zeynep Tumer
exaly