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Journal Article
PLOS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, pp. e108721 - e108721
Journal Article
Seminars in Ophthalmology, ISSN 0882-0538, 05/2018, Volume 33, Issue 4, pp. 560 - 565
Purpose: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related... 
hearing impairment | genetic disorder | non-syndromic retinitis pigmentosa | rod-cone dysfunction | EYS gene | GENOTYPE-PHENOTYPE CORRELATION | POPULATION | FREQUENT | 2299DELG | SYNDROME TYPE-II | LARGE COHORT | LONG ISOFORM | GENE | SYNDROME TYPE-2 | OPHTHALMOLOGY | SPECTRUM | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2695 - 2703
Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families,... 
CNV | WES | EYS | haplotyping | ORTHOLOG | ISRAELI | HOMOZYGOSITY | GENE | DISEASE | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | LINKAGE | SMART | Nonsense mutation | Retinitis pigmentosa | Exons | Nyctalopia | Gene deletion | Hereditary diseases | Electroretinograms | Retinography | DNA microarrays | Clonal deletion | Inbreeding | Retinitis | Mutation
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2010, Volume 51, Issue 8, pp. 4266 - 4272
Journal Article
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. E2091 - E2103
Autosomal-recessive retinitis pigmentosa (arRP) is a genetically heterogeneous group of disorders to which a novel gene, C2orf71, was recently associated. The... 
USH2A GENE | EYS GENE | SERVER | GENETICS & HEREDITY | RECESSIVE RETINITIS-PIGMENTOSA | Rod-cone dystrophies | Autosomal-recessive retinitis pigmentosa | C2orf71
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2017, Volume 10, Issue 2, pp. 325 - 328
Dear Editor, I am Dr.Ji-Hong Wu,from the Department of Ophthalmology,Eye&ENT Hospital of Fudan University,China.I write to present a case report of retinitis... 
EYS MUTATIONS | PHENOTYPE | OPHTHALMOLOGY | IDENTIFICATION | EXUDATIVE VITREORETINOPATHY | FZD4
Journal Article