HuGE Literature Finder
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Records 1-4
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Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.
Gene 2016 Aug . Sleat David E, Gedvilaite Erika, Zhang Yeting, Lobel Peter, Xing Jinchu |
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Human genetics 2014 Mar 133 (3): 331-45. Wang Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H, Sun Vincent, Keser Vafa, Bowne Sara J, Sullivan Lori S, Luo Hongrong, Zhao Ling, Wang Xia, Zaneveld Jacques E, Salvo Jason S, Siddiqui Sorath, Mao Louise, Wheaton Dianna K, Birch David G, Branham Kari E, Heckenlively John R, Wen Cindy, Flagg Ken, Ferreyra Henry, Pei Jacqueline, Khan Ayesha, Ren Huanan, Wang Keqing, Lopez Irma, Qamar Raheel, Zenteno Juan C, Ayala-Ramirez Raul, Buentello-Volante Beatriz, Fu Qing, Simpson David A, Li Yumei, Sui Ruifang, Silvestri Giuliana, Daiger Stephen P, Koenekoop Robert K, Zhang Kang, Chen R |
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Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Developmental medicine and child neurology 2010 Jul 52 (7): 637-43. Adams Heather R, Beck Christopher A, Levy Erika, Jordan Rachel, Kwon Jennifer M, Marshall Frederick J, Vierhile Amy, Augustine Erika F, de Blieck Elisabeth A, Pearce David A, Mink Jonathan |
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Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2006 Feb 38 (1): 41-8. Ju Weina, Wronska Anetta, Moroziewicz Dorota N, Zhong Rocksheng, Wisniewski Natalia, Jurkiewicz Anna, Fiory Michael, Wisniewski Krystyna E, Johnston Lance, Brown W Ted, Zhong Nanbe |
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- Page last updated:Dec 5, 2019
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