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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 29, 2023. (Total: 223447Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Leber Congenital Amaurosis and LCA5[original query]
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
Ophthalmic genetics 2009 Mar 30 (1): 54-5.
Seong Moon-Woo, Kim Seong Yeon, Yu Young Suk, Hwang Jeong-Min, Kim Ji Yeon, Park Sung S
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Human mutation 2013 Nov 34 (11): 1537-46.
Mackay Donna S, Borman Arundhati Dev, Sui Ruifang, van den Born L Ingeborgh, Berson Eliot L, Ocaka Louise A, Davidson Alice E, Heckenlively John R, Branham Kari, Ren Huanan, Lopez Irma, Maria Maleeha, Azam Maleeha, Henkes Arjen, Blokland Ellen, , Andreasson Sten, de Baere Elfride, Bennett Jean, Chader Gerald J, Berger Wolfgang, Golovleva Irina, Greenberg Jacquie, den Hollander Anneke I, Klaver Caroline C W, Klevering B Jeroen, Lorenz Birgit, Preising Markus N, Ramsear Raj, Roberts Lisa, Roepman Ronald, Rohrschneider Klaus, Wissinger Bernd, Qamar Raheel, Webster Andrew R, Cremers Frans P M, Moore Anthony T, Koenekoop Robert
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Journal of applied genetics 2022 11 64 (1): 89-104.
Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe
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