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Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, p. 35360
Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular... 
EXOME SEQUENCING REVEALS | GENE | CLONING | MULTIDISCIPLINARY SCIENCES | Atrophy | Data processing | Genetic counseling | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0149663
Journal Article
NATURE NEUROSCIENCE, ISSN 1097-6256, 08/2019, Volume 22, Issue 8, pp. 1345 - 1345
Journal Article
RNA Biology, ISSN 1547-6286, 06/2019, Volume 16, Issue 6, pp. 821 - 829
Circular RNAs (circRNAs) belong to an endogenous class of RNA molecules with both ends covalently linked in a circle. Although their expression pattern in the... 
sponge | different vertebrate species | retina | circular RNA | circPDE4B | ABUNDANT | CONES | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROLIFERATION | IDENTIFICATION | EXPRESSION | EFFICIENT | REVEALS
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1039 - 1045
Retinitis pigmentosa (RP) is the most common manifestation of inherited retinal diseases with high degree of genetic, allelic, and phenotypic heterogeneity.... 
nonsyndromic RP | CEP250 | cilia | knockin mice | retinal dysfunction | GENOTYPE-PHENOTYPE CORRELATION | CENTROSOME | DEGENERATION | PROTEIN C-NAP1 | DYSTROPHY | GENETICS | GENETICS & HEREDITY | MUTATIONS | LINKER | CEP78 | Retinal diseases | Animal models | Phenotypes | Retinitis pigmentosa | Retina | Photoreceptors | Retinitis | Mutation | Electroretinograms
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, p. 9064
Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations... 
ZEBRAFISH | ANOPHTHALMIA | RX | MULTIDISCIPLINARY SCIENCES | EYELESS | MICROPHTHALMIA | RETINITIS-PIGMENTOSA | HOMEOBOX GENE | EXPRESSION | VERTEBRATE EYE DEVELOPMENT | Eye | Retinoschisis | Heredity | Mutation | Gene mapping | Protein structure | Crystal structure
Journal Article
Scientific Reports, ISSN 2045-2322, 02/2014, Volume 4, Issue 1, p. 4121
Journal Article
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, p. 35414
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central... 
TRANSPORT | PROTEIN | DYSTROPHY | MULTIDISCIPLINARY SCIENCES | FUNDUS-FLAVIMACULATUS | PHENOTYPE | MACULAR DEGENERATION | RETINOPATHY | SYSTEMS | SPECTRUM | HISTOPATHOLOGY | Macular degeneration | Genetic counseling | Cell death | Exons | Genetic analysis | Retinal degeneration | Retina | Mutation | Dystrophy | Epithelium | Retinal pigment epithelium
Journal Article