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Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy
Laurence H M Pierrache
, Muriël Messchaert
, Alberta A H J Thiadens
, Lonneke Haer-Wigman
, Yvonne de Jong-Hesse
, Wendy A G van Zelst-Stams
, Rob W J Collin
, Caroline C W Klaver
,
L Ingeborgh van den Born
Rotterdam Ophthalmic Institute
Medical retina and Uveitis
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Keyphrases
Retinal Diseases
100%
Macular Dystrophy
100%
Retinitis pigmentosa
85%
Cone-rod Dystrophy
42%
Inherited Retinal Disease
42%
Diagnostic Performance
14%
Disease Progression
14%
Biallelic
14%
Visual Field Defect
14%
Age of Onset
14%
Hyperautofluorescent Ring
14%
Isopter
14%
Natural Course
14%
Unsolved Cases
14%
Disease Database
14%
Ellipsoid Zone
14%
Exon 8
14%
Minigene Splicing Assay
14%
Skipping
14%
EYS Gene
14%
Early Treatment Diabetic Retinopathy Study
14%
Phenotypic Variation
14%
RNA Splicing
14%
Multiethnic Cohort Study
14%
Visual Acuity Loss
14%
Observed Heterogeneity
14%
Compound Heterozygous mutation
14%
Biochemistry, Genetics and Molecular Biology
Retinitis pigmentosa
100%
Visual Acuity
16%
Visual Field
16%
Exon
16%
Cohort Study
16%
Minigene
16%
RNA Splicing
16%