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DEAFNESS, AUTOSOMAL RECESSIVE 31

Known as: DFNB31, Whirler, Mouse, Homolog Of 
 
National Institutes of Health

Papers overview

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2016
2016
While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear… Expand
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2016
2016
Summary WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher… Expand
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2015
2015
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in… Expand
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2013
2013
Background Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and… Expand
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2012
2012
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a… Expand
2012
2012
PURPOSE Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa… Expand
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Highly Cited
2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… Expand
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2005
2005
Approximately 80% of hereditary hearing loss is non‐syndromic. Non‐syndromic deafness is the most genetically heterogeneous trait… Expand
Highly Cited
2003
Highly Cited
2003
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in… Expand
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2002
2002
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a… Expand
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