Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
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Clinical applications of fundus autofluorescence in retinal diseaseRetinol Dehydrogenases Regulate Vitamin A Metabolism for Visual FunctionOptimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration.Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatusFundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.The value of clinical electrophysiology in the assessment of the eye and visual system in the era of advanced imaging.Fine central macular dots associated with childhood-onset Stargardt Disease.Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
P2860
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P2860
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
@en
Phenotypic variability in RDH5 retinopathy
@nl
type
label
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
@en
Phenotypic variability in RDH5 retinopathy
@nl
prefLabel
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
@en
Phenotypic variability in RDH5 retinopathy
@nl
P2093
P50
P1433
P1476
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus)
@en
P2093
Andrew R Webster
Anthony T Moore
Genevieve A Wright
Graham E Holder
Vikki A McBain
P304
P356
10.1016/J.OPHTHA.2010.12.031
P577
2011-04-29T00:00:00Z