Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness. - sprookjes - yvandenbroek - TriplyDB

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

http://www.wikidata.org/entity/Q30427880

about

Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss.Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

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P2860

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.

http://www.wikidata.org/entity/Q30427880

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Combined examination of sequen ...... for cases of genetic deafness.

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Combined examination of sequen ...... for cases of genetic deafness.

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Combined examination of sequen ...... for cases of genetic deafness.

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Combined examination of sequen ...... for cases of genetic deafness.

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BMC Ear, Nose and Throat Disorders

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Haiting Ji

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Huawei Li

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Jianjun Wang

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Jingqiao Lu

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Xi Lin

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P2860

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

Mapping copy number variation by population-scale genome sequencing

Global variation in copy number in the human genome

A method and server for predicting damaging missense mutations

Detection of large-scale variation in the human genome

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Copy number variants are a common cause of non-syndromic hearing loss

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