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DEAFNESS, AUTOSOMAL RECESSIVE 6

Known as: DFNB6, NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6, NSRD6 
 
National Institutes of Health

Papers overview

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2013
2013
A patient with nonsyndromic Kleeblattschädel, who underwent a craniotomy involving a constricting calvarial ring and frontal… Expand
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2011
2011
Purpose Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the… Expand
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2007
2007
Conclusion. The circling mouse (cir/cir) has phenotypes which follow the pattern of neuroepithelial defects of deafness from 10… Expand
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2002
2002
The recessive mutation at the mouse spinner (sr) locus results in hearing loss and vestibular dysfunction due to neuroepithelial… Expand
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Highly Cited
2002
Highly Cited
2002
We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene… Expand
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2001
2001
The SLC26 gene family (solute carrier family 26) comprises five mammalian genes that encode anion transporter-related proteins… Expand
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Review
1999
Review
1999
What To Do Do suspect a genetic cause in all cases of hearing loss. Do develop a working knowledge of common types of HHI that… Expand
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1999
1999
Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade… Expand
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1996
1996
The recessive mode of transmission accounts for approximately 75% of inherited non syndromic deafness cases. We have previously… Expand
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1995
1995
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing… Expand
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