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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2024. (Total: 234028Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Hearing Loss and CATSPER2[original query]
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
Clinical genetics 2015 Jun 87 (6): 588-93.
Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar .
Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Scientific reports 2022 1 12 (1): 634.
Nishio Shin-Ya, Usami Shin-Ic
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