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Acta Ophthalmologica, ISSN 1755-375X, 05/2020, Volume 98, Issue 3, pp. 286 - 295
Purpose The purpose of this study was to characterize current clinical and genetic knowledge of patients with inherited retinal disease in Norway and give an... 
genetic diseases | prevalence | registry | clinical characterization | inherited retinal disease | SAFETY | RPE65 MUTATIONS | EYE | LEBER CONGENITAL AMAUROSIS | THERAPY | DYSTROPHY | OPHTHALMOLOGY | EXPERIENCE | RETINITIS-PIGMENTOSA | USH2A protein | Retinitis pigmentosa | Blindness | Clinical trials | Retina | Population studies | Heredity | Retinitis | Dystrophy | Patients | Genetic counselling | Genetic screening
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2018, Volume 26, Issue 5, pp. 687 - 694
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 02/2017, Volume 34, Issue 1, pp. 118 - 123
Journal Article
Journal of Ocular Pharmacology and Therapeutics, ISSN 1080-7683, 03/2019, Volume 35, Issue 2, pp. 79 - 97
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 11/2017, Volume 5, Issue 6, pp. 652 - 667
Journal Article
BMC medical genetics, ISSN 1471-2350, 11/2018, Volume 19, Issue 1, pp. 195 - 10
Journal Article
Clinical ophthalmology (Auckland, N.Z.), ISSN 1177-5467, 2020, Volume 14, pp. 707 - 719
To date, there has been a global lack of data regarding the prevalence of conditions falling under the Inherited Retinal Diseases (IRD) classification, the... 
Vitamin A | Illnesses | Funding | Genes | Counseling | Clinical trials | Families & family life | Research | Patients | Estimates | cost-of-illness | genetic diagnosis | inherited retinal disease
Journal Article
Expert Opinion on Biological Therapy, ISSN 1471-2598, 06/2020, Volume 20, Issue 6, pp. 565 - 578
Journal Article
Vision, ISSN 2411-5150, 09/2017, Volume 1, Issue 3, p. 22
Inherited retinal diseases are an extremely diverse group of genetically and phenotypically heterogeneous conditions characterized by variable maturation of... 
Macular degeneration | Splicing | Clinical trials | Retina | Antisense | mRNA | Mutation | Drug development | Kinases | Hereditary diseases | retinitis pigmentosa | alternative splicing | pre-mRNA splicing process | inherited retinal dystrophy | splicing correction | antisense oligonucleotides
Journal Article
Journal Article
2019, Advances in Experimental Medicine and Biology, Volume 1186, 43
Book Chapter
Cells, ISSN 2073-4409, 04/2020, Volume 9, Issue 4, p. 882
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 7, p. e22166