High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
about
The future role of genetic screening to detect newborns at risk of childhood-onset hearing lossGenotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencingA custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approachComprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Subcellular localization of the transmembrane inner ear (Tmie) protein in a stable Tmie-expressing cell line.Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyDFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in ChinaScreening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approachGenetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosisInosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsGenetics of hearing loss: where are we standing now?Genetics: advances in genetic testing for deafness.Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
P2860
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P2860
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
High-throughput detection of m ...... sing resequencing microarrays.
@ast
High-throughput detection of m ...... sing resequencing microarrays.
@en
High-throughput detection of m ...... sing resequencing microarrays.
@nl
type
label
High-throughput detection of m ...... sing resequencing microarrays.
@ast
High-throughput detection of m ...... sing resequencing microarrays.
@en
High-throughput detection of m ...... sing resequencing microarrays.
@nl
prefLabel
High-throughput detection of m ...... sing resequencing microarrays.
@ast
High-throughput detection of m ...... sing resequencing microarrays.
@en
High-throughput detection of m ...... sing resequencing microarrays.
@nl
P2093
P2860
P356
P1433
P1476
High-throughput detection of m ...... sing resequencing microarrays.
@en
P2093
Ammar Husami
John H Greinwald
Jonathan Ebert
Margaret A Kenna
Prachi Kothiyal
Stephanie Cox
P2860
P2888
P356
10.1186/1472-6750-10-10
P577
2010-02-10T00:00:00Z
P5875
P6179
1001560591