Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
about
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeExome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosisExperience of targeted Usher exome sequencing as a clinical test.Next-generation sequencing in childhood disorders.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
P2860
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P2860
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@ast
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@en
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@nl
type
label
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@ast
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@en
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@nl
prefLabel
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@ast
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@en
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@nl
P2093
P2860
P50
P1433
P1476
Molecular diagnosis of Usher s ...... n sequencing-based procedures.
@en
P2093
Angela D'Eustacchio
Antonella Fabretto
Carmela Ziviello
Danilo Licastro
Francesca D'Amico
Ivana Peluso
Kornelia Neveling
Margherita Mutarelli
Mariateresa Pizzo
Nienke Wieskamp
P2860
P304
P356
10.1371/JOURNAL.PONE.0043799
P407
P577
2012-08-29T00:00:00Z