HuGE Literature Finder
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| 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 |
| 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 |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| 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 |
| Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genetic testing and molecular biomarkers 2014 Sep 18 (9): 658-61. Bademci Guney, Diaz-Horta Oscar, Guo Shengru, Duman Duygu, Van Booven Derek, Foster Joseph, Cengiz Filiz Basak, Blanton Susan, Tekin Musta |
| Copy number variants are a common cause of non-syndromic hearing loss. Genome medicine 2014 6 (5): 37. Shearer A Eliot, Kolbe Diana L, Azaiez Hela, Sloan Christina M, Frees Kathy L, Weaver Amy E, Clark Erika T, Nishimura Carla J, Black-Ziegelbein E Ann, Smith Richard J |
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