Molecular characterization of retinitis pigmentosa in Saudi Arabia.
about
Bardet-Biedl SyndromeRetinal dystrophies, genomic applications in diagnosis and prospects for therapyNext-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotypeRetinitis pigmentosa and allied conditions today: a paradigm of translational researchCongenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyFunctional analysis of BBS3 A89V that results in non-syndromic retinal degenerationAlternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis PigmentosaHomozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeA novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesWhole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneDevelopment of very large electrode arrays for epiretinal stimulation (VLARS).Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.In search of triallelism in Bardet-Biedl syndromeGenetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
P2860
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P2860
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@en
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@nl
type
label
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@en
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@nl
prefLabel
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@en
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@nl
P2093
P2860
P1433
P1476
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
@en
P2093
Ali Al-Rajhi
Arif O Khan
Brian F Meyer
Faisal Alqahtani
Fatemah Alzahrani
Hanan Shamseldin
Hanif Khalak
Hisham Alkuraya
Leen Abu Safieh
Mais Hashem
P2860
P304
P577
2009-11-24T00:00:00Z