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Usher syndrome, type 2C

Known as: USH2C, Usher Syndrome, Type IIC 
 
National Institutes of Health

Papers overview

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2018
2018
BackgroundUsher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing… Expand
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Highly Cited
2011
Highly Cited
2011
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some… Expand
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Highly Cited
2010
Highly Cited
2010
Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It… Expand
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2009
2009
Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female… Expand
2009
2009
Background: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes… Expand
Highly Cited
2008
Highly Cited
2008
Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading… Expand
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Highly Cited
2005
Highly Cited
2005
PURPOSE To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused… Expand
Highly Cited
2005
Highly Cited
2005
The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol… Expand
Highly Cited
2004
Highly Cited
2004
Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes… Expand
2002
2002
Usher syndrome (USH) is an autosomal recessive disorder characterised by hearing impairment and retinitis pigmentosa (RP). The… Expand