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PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0205380 - e0205380
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 06/2019, Volume 10, Issue 1, pp. 2884 - 7
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen... 
RP1 | ALLELES | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | RISK | MUTATIONS | IDENTIFICATION | RETINITIS-PIGMENTOSA | ASSOCIATION | Blindness | Alleles | Retinal degeneration | Insertion | Retina | Heredity | Mutation
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 11/2018, Volume 59, Issue 13, pp. 5566 - 5568
Journal Article
Science Translational Medicine, ISSN 1946-6234, 2019, Volume 11, Issue 492, p. eaav4523
Retinal gene therapy with adeno-associated viral (AAV) vectors holds promises for treating inherited and noninherited diseases of the eye. Although clinical... 
MEDICINE, RESEARCH & EXPERIMENTAL | AAV | DISEASE | GENE-THERAPY | NPU DNAE INTEIN | EXPRESSION | ABCR | VECTORS EXPAND | DELIVERY | CELL BIOLOGY
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 6, pp. 884 - 895
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2018, Volume 26, Issue 12, pp. 1819 - 1823
Familial exudative vitreoretinopathy (FLVR) is an inherited retinal disorder, which is primarily characterized by abnormal development of retinal vasculature.... 
EG5 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | SPINDLE | MUTATIONS | LYMPHEDEMA | Familial exudative vitreoretinopathy | Genetic counseling | Microencephaly | Biopsy | Risk assessment | Retina | Mosaicism | Skin | Microcephaly | Saliva | Index Medicus
Journal Article
Journal Article