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Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 5, pp. 1143 - 1150
Journal Article
Pharmaceutical Research, ISSN 0724-8741, 11/2018, Volume 35, Issue 11, pp. 1 - 4
Ophthalmic drug discovery and development has enjoyed a recent renaissance, with a major shift away from reformulating old systemic drugs for ocular use to de... 
Biochemistry, general | Biomedical Engineering | inherited retinal degenerative disease | Biomedicine | Pharmacy | Medical Law | Pharmacology/Toxicology | Drugs | Fighting | Product innovation | Therapeutic applications | Retina | Drug development | Gene sequencing | Eye | Industrial development | Blindness | Retinal degeneration | Eye diseases | Drug discovery | Molecular biology | Refueling
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2017, Volume 58, Issue 1, pp. 424 - 429
Journal Article
Journal of Korean Medical Science, ISSN 1011-8934, 06/2019, Volume 34, Issue 21, pp. e161 - e161
Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for... 
Gene | Gene panel | Inherited retinal disease | Korea | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 8, pp. 536 - 542
Background Next generation sequencing (NGS) generates a large amount of genetic data that can be used to better characterise disease-causing variants. Our aim... 
inherited retinal diseases | minor allele frequency | pathogenic variant | autosomal dominant | CARBONIC-ANHYDRASE-IV | DIAGNOSIS | R14W | PREVALENCE | DEGENERATION | FAMILIES | MUTATION | GENETICS & HEREDITY | FSCN2 | RETINITIS-PIGMENTOSA | Databases | Next-generation sequencing | Disease | Gene frequency | Genes | Alleles | Retina | Genomes | Heredity | Mutation | Data bases | Index Medicus
Journal Article