Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.
about
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsNext-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandPresentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Analysis of the Retinal Nerve Fiber Layer in Retinitis Pigmentosa Using Optic Coherence Tomography.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole.Radial Peripapillary Capillary Network in Patients with Retinitis Pigmentosa: An Optical Coherence Tomography Angiography Study.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
P2860
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P2860
Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին 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
Diagnostic challenges in retin ...... ty and phenotypic variability.
@ast
Diagnostic challenges in retin ...... ty and phenotypic variability.
@en
Diagnostic challenges in retin ...... ty and phenotypic variability.
@nl
type
label
Diagnostic challenges in retin ...... ty and phenotypic variability.
@ast
Diagnostic challenges in retin ...... ty and phenotypic variability.
@en
Diagnostic challenges in retin ...... ty and phenotypic variability.
@nl
prefLabel
Diagnostic challenges in retin ...... ty and phenotypic variability.
@ast
Diagnostic challenges in retin ...... ty and phenotypic variability.
@en
Diagnostic challenges in retin ...... ty and phenotypic variability.
@nl
P2093
P2860
P1433
P1476
Diagnostic challenges in retin ...... ty and phenotypic variability.
@en
P2093
John Christoforidis
Leah Vaccarella
Sunday Olatunji
Susie Chang
P2860
P304
P356
10.2174/138920211795860116
P577
2011-06-01T00:00:00Z