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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Deafness and ESPN[original query]
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Journal of medical genetics 2006 Feb 43 (2): 157-61.
Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles J R, Gasparini
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.
Oncotarget 2017 Sep 8 (38): 63324-63332.
Wang Pu, Fan Xinmiao, Wang Yibei, Fan Yue, Liu Yaping, Zhang Shuyang, Chen Xiaow
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Medicina (Kaunas, Lithuania) 2018 10 54 (2): .
Plevova Pavlina, Tvrda Petra, Paprskarova Martina, Turska Petra, Kantorova Barbara, Mrazkova Eva, Zapletalova Ja
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
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
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