Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
about
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucomaAlternative splicing of type II procollagen: IIB or not IIB?Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in KoreaHearing impairment in Stickler syndrome: a systematic review.Ophthalmic and molecular genetic findings in Kniest dysplasia.Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeProteomic Analysis of the Bovine and Human Ciliary Zonule.Genetic testing for inherited ocular disease: delivering on the promise at last?Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.Stickler syndrome.Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
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P2860
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@ast
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@en
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@nl
type
label
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@ast
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@en
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@nl
prefLabel
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@ast
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@en
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@nl
P2093
P2860
P3181
P356
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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
@en
P2093
A J Richards
A M McNinch
A V Poulson
B Silverman
P Bearcroft
P Gomersall
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P2888
P304
P3181
P356
10.1038/EYE.2011.201
P407
P577
2011-11-01T00:00:00Z
P5875
P6179
1041572782