Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Leber Congenital Amaurosis and RPGR[original query] |
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| Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
| Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
| Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
| HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis. Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126. Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di |
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