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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 27"
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A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
J Mol Med (Berl). 2014 Jun;92(6):651-63. doi: 10.1007/s00109-014-1128-3. Epub 2014 Feb 15.
J Mol Med (Berl). 2014.
PMID: 24526180
Appropriate customized auditory rehabilitation for hearing impaired subjects requires prediction of residual hearing and progression of hearing loss. Mutations in TMPRSS3 encoding a transmembrane serine protease were reported to be associated with two different autosoma …
Appropriate customized auditory rehabilitation for hearing impaired subjects requires prediction of residual hearing and progression …
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
González JR, Wang W, Ballana E, Estivill X.
González JR, et al.
Hum Mutat. 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390.
Hum Mutat. 2006.
PMID: 16941638
Free PMC article.
Mutations in the DFNB1 locus, where two connexin genes are located (GJB2 and GJB6), account for half of congenital cases of nonsyndromic autosomal recessive deafness. Because of the high frequency of DFNB1 gene mutations and the availability of genetic diagnostic te …
Mutations in the DFNB1 locus, where two connexin genes are located (GJB2 and GJB6), account for half of congenital cases of nonsyndromic …
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