about
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis PigmentosaDependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Genetics of Hearing Loss: SyndromicGenetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosisAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsThe combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.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.The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
P2860
Q28550905-B762CA6F-BB04-4831-A89C-85E66E28795CQ35818979-D52869D0-D263-4107-840F-9976A058500AQ36271544-69F712CC-F8BA-4939-9AEC-D23D77F194D8Q37108023-AEE9F522-9466-409D-98FF-3BD99507597CQ37426932-020D0E9C-51EA-43F3-A4FB-B254FA197DC1Q38981445-57428D6B-A1B2-4BD1-878F-CA43246BE57FQ41696457-047926D5-0DB8-4ACE-AF3F-119F9ACDCC1EQ47151151-BF1E12DF-8302-4347-8212-B5388F71CF5DQ47858818-6AF03C8B-5C3F-45A7-BBE1-46EE97FD3268Q53732831-95B7604C-200A-4395-A846-07B316E5E4E5
P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Targeted exon sequencing in Usher syndrome type I
@ast
Targeted exon sequencing in Usher syndrome type I
@en
Targeted exon sequencing in Usher syndrome type I
@nl
type
label
Targeted exon sequencing in Usher syndrome type I
@ast
Targeted exon sequencing in Usher syndrome type I
@en
Targeted exon sequencing in Usher syndrome type I
@nl
prefLabel
Targeted exon sequencing in Usher syndrome type I
@ast
Targeted exon sequencing in Usher syndrome type I
@en
Targeted exon sequencing in Usher syndrome type I
@nl
P2093
P2860
P50
P356
P1476
Targeted exon sequencing in Usher syndrome type I
@en
P2093
Carol Weigel DiFranco
Daniel Navarro-Gomez
Eliot L Berson
Emily Place
Jaclyn Lena
Joseph White
Mark Consugar
Michael H Farkas
Shyana Harper
Xiaowu Gai
P2860
P304
P356
10.1167/IOVS.14-15169
P407
P577
2014-12-02T00:00:00Z