HuGE Literature Finder
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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 49S-60S. Nishio Shin-Ya, Usami Shin-Ic |
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PloS one 2015 10 (11): e0142154. Atik Tahir, Onay Huseyin, Aykut Ayca, Bademci Guney, Kirazli Tayfun, Tekin Mustafa, Ozkinay Fer |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
Novel mutations in the USH1C gene in Usher syndrome patients. Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan. International journal of pediatric otorhinolaryngology 2009 Mar . Su MC, Yang JJ, Su CC, Hsin CH, Li SY |
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