Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Item
http://www.wikidata.org/entity/Q43934927
Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing lossMutations in LOXHD1 gene cause various types and severities of hearing loss.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.Whole-exome sequencing and its impact in hereditary hearing lossTargeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss.TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
P2860

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Item
http://www.wikidata.org/entity/Q43934927
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... f Italian and Qatari patients.
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Hereditary hearing loss: a 96 ...... of Italian and Qatari patients
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10.1016/J.GENE.2014.03.033
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