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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 8"
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Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H. Xia H, et al. PLoS One. 2015 Aug 26;10(8):e0136306. doi: 10.1371/journal.pone.0136306. eCollection 2015. PLoS One. 2015. PMID: 26308726 Free PMC article.
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. ...The homozygous MYO15A c.9316dupC var …
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disor …
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiograms were evaluated in the GJB2 mutants. ...The c.235delC mutation showed a particularly wide spectrum of hearing loss, from mild to profound …
GJB2 sequencing was carried out for 130 probands with sporadic or autosomal recessive non syndromic hearing loss. The audiogra …
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Doll J, Hofrichter MAH, Bahena P, Heihoff A, Segebarth D, Müller T, Dittrich M, Haaf T, Vona B. Doll J, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1343. doi: 10.1002/mgg3.1343. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519820 Free PMC article.
BACKGROUND: MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. ...(Leu239Pro) in the kinase domain of MYO3A was identified that is predicted in silico a …
BACKGROUND: MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant n …
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY. Chung J, et al. 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 …