Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Item
http://www.wikidata.org/entity/Q30936163
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 geneReappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex.Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.The role of fundus autofluorescence in late-onset retinitis pigmentosa (LORP) diagnosisA tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?Radial fundus autofluorescence in the periphery in patients with X-linked retinitis pigmentosa.Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
P2860

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Item
http://www.wikidata.org/entity/Q30936163
description
2004 nî lūn-bûn
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2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Fundus autofluorescence in car ...... gical and psychophysical data.
@ast
Fundus autofluorescence in car ...... gical and psychophysical data.
@en
type
label
Fundus autofluorescence in car ...... gical and psychophysical data.
@ast
Fundus autofluorescence in car ...... gical and psychophysical data.
@en
prefLabel
Fundus autofluorescence in car ...... gical and psychophysical data.
@ast
Fundus autofluorescence in car ...... gical and psychophysical data.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P921
P356
P1433
P1476
Fundus autofluorescence in car ...... gical and psychophysical data.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P921