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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 4, 2024. (Total: 232145Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Leber Congenital Amaurosis and USH2A[original query]
Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6.
Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex
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
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Ophthalmic genetics 2019 3 40 (2): 110-117.
Glen W Bailey, Peterseim M Millicent W, Badilla Ramses, Znoyko Iya, Bourg Andre, Wilson Robert, Hardiman Gary, Wolff Daynna, Martinez Joaqu
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
BMC medical genomics 2021 3 14 (1): 74.
Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G
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
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