Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and CLN3[original query] |
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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 |
| Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. JIMD reports 2013 10 1-9. Al-Jasmi Fatma A, Tawfig Nafisa, Berniah Ans, Ali Bassam R, Taleb Mahmoud, Hertecant Jozef L, Bastaki Fatma, Souid Abdul-Kad |
| 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 |
| Haplotype synthesis analysis reveals functional variants underlying known genome-wide associated susceptibility loci. Bioinformatics (Oxford, England) 2016 Mar . Lacour André, Ellinghaus David, Schreiber Stefan, Franke Andre, Becker T |
| Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early-onset cases identifies novel Alzheimer's disease loci. Alzheimer's & dementia (Amsterdam, Netherlands) 2018 11 10 554-562. Cheng Rong, Tang Min, Martinez Izri, Ayodele Temitope, Baez Penelope, Reyes-Dumeyer Dolly, Lantigua Rafael, Medrano Martin, Jimenez-Velazquez Ivonne, Lee Joseph H, Beecham Gary W, Reitz Christia |
| Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures. Journal of inherited metabolic disease 2021 2 44 (4): 1013-1020. Abdennadher Myriam, Inati Sara, Soldatos Ariane, Norato Gina, Baker Eva H, Thurm Audrey, Bartolini Luca, Masvekar Ruturaj, Theodore William, Bielekova Bibiana, Porter Forbes D, Dang Do An |
| Systematic assessment of the contribution of structural variants to inherited retinal diseases. Human molecular genetics 2023 2 . Wen Shu, Wang Meng, Qian Xinye, Li Yumei, Wang Keqing, Choi Jongsu, Pennesi Mark E, Yang Paul, Marra Molly, Koenekoop Robert K, Lopez Irma, Matynia Anna, Gorin Michael, Sui Ruifang, Yao Fengxia, Goetz Kerry, Porto Fernanda Belga Ottoni, Chen R |
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