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Journal Article
DOCUMENTA OPHTHALMOLOGICA, ISSN 0012-4486, 08/2019, Volume 139, Issue 1, pp. 45 - 57
PurposeThe aim of this study was to examine the ophthalmological characteristics and genotypes of patients with congenital retinal pathologies, who display a... 
GUCY2D | CRX | Genotype | Negative ERG | BLINDNESS | Phenotype | GENE | CONE-ROD DYSTROPHY | Bull's-eye maculopathy | ELECTRORETINOGRAM | OPHTHALMOLOGY | MUTATIONS | STARGARDT-DISEASE | Diabetic retinopathy | Genetic disorders | Ophthalmology | Cattle | Index Medicus
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 8/2019, Volume 139, Issue 1, pp. 45 - 57
The aim of this study was to examine the ophthalmological characteristics and genotypes of patients with congenital retinal pathologies, who display a... 
Genotype | Negative ERG | Phenotype | Ophthalmology | Medicine & Public Health | Bull’s-eye maculopathy | Eye | Color vision | Visual field | Peripheral blood | Guanylate cyclase 1 | Retina | Mutation | Patients | CRX protein | Genotypes | Acuity | Electroretinograms
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 04/2015, Volume 9, Issue 2, pp. 131 - 133
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 07/2015, Volume 36, Issue 3, pp. 270 - 275
Background : Methylmalonic aciduria and homocystinuria type C (cblC), a disorder of vitamin B12 (cobalamin) metabolism caused by mutations in the MMACHC gene,... 
Bull’s eye maculopathy | methylmalonic aciduria and homocystinuria type C (MMACHC) | whole-exome sequencing | Case Reports
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 2014, Volume 8, Issue 4, pp. 322 - 325
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2018, Volume 39, Issue 1, pp. 120 - 124
Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later... 
bull's eye maculopathy | CRX mutation | Retinal dystrophy | cone-rod homeobox gene | benign concentric macular dystrophy | bull’s eye maculopathy | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | OPHTHALMOLOGY | Index Medicus
Journal Article
Der Ophthalmologe, ISSN 0941-293X, 7/2013, Volume 110, Issue 7, pp. 654 - 662
Die Makulo- bzw. Retinopathie ist eine seltene Nebenwirkung der Einnahme von (Hydroxy-)Chloroquin. Trotz der Leitlinien der American Academy of Ophthalmology... 
Hydroxychloroquin | Hydroxychloroquine | Bull’s eye maculopathy | Medicine & Public Health | Toxic retinal damage | Chloroquine | Maculopathy | Ophthalmology | Chloroquin | Makulopathie | Toxische Netzhautschäden | Schießscheibenmakulopathie | Bull's eye maculopathy
Journal Article
Cell, ISSN 0092-8674, 09/2014, Volume 159, Issue 1, pp. 200 - 214
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 571 - 578
Journal Article
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