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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Leber Congenital Amaurosis and ALMS1[original query]
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.
Clinical genetics 2015 May .
Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang
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
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