Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Counseling and CLN3[original query] |
---|
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 |
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative ophthalmology & visual science 2023 3 64 (3): 23. Kolesnikova Masha, Lima de Carvalho Jose Ronaldo, Oh Jin Kyun, Soucy Megan, Demirkol Aykut, Kim Angela H, Tsang Stephen H, Breazzano Mark |
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 25, 2024
- Content source: