Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. - Wikidata - awgldk - TriplyDB

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.

http://www.wikidata.org/entity/Q34274871

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Bioinformatic Analysis of GJB2 Gene Missense Mutations.Hearing impairment and language delay in infants: Diagnostics and genetics.Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment Illumina sequencing of 15 deafness genes using fragmented amplicons.High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.Targeted resequencing and variant validation using pxlence PCR assays Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model Genetics: advances in genetic testing for deafness.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care Molecular diagnostics for hereditary hearing loss in children.DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.High-throughput PCR assay design for targeted resequencing using primerXL.Advances in Molecular Genetics and the Molecular Biology of Deafness.Etiologic and diagnostic evaluation: algorithm for severe to profound sensorineural hearing loss in Brazil.Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.

http://www.wikidata.org/entity/Q34274871

description

2012 nî lūn-bûn

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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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BMC Medical Genomics

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Bieke Scharlaken

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Daisy Flamez

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Hendrik Van de Voorde

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Jean-Pierre Renard

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Joachim De Schrijver

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Mohammad Amin Tabatabaiefar

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Sarah De Keulenaer

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P2860

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

BLAT--the BLAST-like alignment tool

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

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

Newborn hearing screening--a silent revolution.

The impact of next-generation sequencing on genomics.

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Jo Vandesompele

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