Additional file 2 of Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel

Autor: Ma, Jing, Ma, Xiuli, Lin, Ken, Huang, Rui, Bi, Xianyun, Ming, Cheng, Li, Li, Li, Xia, Li, Guo, Zhao, Liping, Yang, Tao, Gao, Yingqin, Zhang, Tiesong

Additional file 2: Table S2. Mutations identified in known hearing loss genes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::864a61c3cdeb95d22274f79c3dfbe532

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Cover.

Autor: Ma, Jing, Lin, Ken, Jiang, Hong‐chao, Yang, Yanli, Zhang, Yu, Yang, Guilian, Sun, Hao, Ming, Cheng, Bi, Xianyun, Zhang, Tiesong, Ruan, Biao

Publikováno v: Molecular Genetics & Genomic Medicine; Jul2019, Vol. 7 Issue 7, pN.PAG-N.PAG, 1p

[Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in PAX3 gene].

Autor: Li X; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Zhao S; Department of Otolaryngology Head and Neck Surgery，Zhaotong First People's Hospital., Bi X; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Lou F; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Zeng W; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Gao Y; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Mao Z; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China., Ma J; Department of Otolaryngology Head and Neck Surgery，Kunming Children's Hospital，（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China.; Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children.

Publikováno v: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2021 Jul; Vol. 35 (7), pp. 621-626.