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2003, Developments in ophthalmology, ISBN 9783805575782, Volume 37., vi, 223
The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and... 
Eye | Genetic aspects | Diseases
Book
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Journal Article
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 5665 - 11
Multimodal imaging provides insights into phenotype and disease progression in inherited retinal disorders. Congenital achromatopsia (ACHM), a cone dysfunction... 
ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | QUANTITATIVE FUNDUS AUTOFLUORESCENCE | MULTIDISCIPLINARY SCIENCES | IN-VIVO | MACULAR DEGENERATION | MUTATIONS | RETINITIS-PIGMENTOSA | OCULAR MELANIN | RECESSIVE STARGARDT DISEASE | RETINAL-PIGMENT EPITHELIUM | Eye | Phenotypes | Medical imaging | Acetylcholine receptors | Biomarkers | Retina | I.R. radiation | Wavelength
Journal Article