Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
about
Diversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeA robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesGenetics of Hearing Loss: SyndromicNovel grading system for quantification of cystic macular lesions in Usher syndrome.Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaNext generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsA genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population.Exome sequencing and whole genome sequencing for the detection of copy number variation.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
P2860
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P2860
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@ast
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@en
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@nl
type
label
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@ast
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@en
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@nl
prefLabel
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@ast
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@en
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
@nl
P2093
P2860
P50
P1476
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
@en
P2093
Anne-Françoise Roux
Carla Fuster-García
Elena Aller
Fiona Blanco-Kelly
Gema García-García
José M Millán
Teresa Jaijo
P2860
P2888
P356
10.1186/S13023-014-0168-7
P577
2014-11-18T00:00:00Z
P5875
P6179
1000086122