Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Hearing and USH1C[original query] |
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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 |
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 |
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 |
Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. Clinical genetics 2019 9 97 (2): 352-356. Zou Songfeng, Mei Xueshuang, Yang Weiqiang, Zhu Rvfei, Yang Tao, Hu Hong |
Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss. Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
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