Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Deafness and MITF[original query] |
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Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? Medicine 2016 Apr 95 (14): e3029. Kim So Young, Kim Ah Reum, Kim Nayoung K D, Lee Chung, Kim Min Young, Jeon Eun-Hee, Park Woong-Yang, Choi Byung Yo |
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome. Scientific reports 2016 Oct 6 35498. Sun Lianhua, Li Xiaohua, Shi Jun, Pang Xiuhong, Hu Yechen, Wang Xiaowen, Wu Hao, Yang T |
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural plasticity 2019 2019 7143458. Li Wu, Mei Lingyun, Chen Hongsheng, Cai Xinzhang, Liu Yalan, Men Meichao, Liu Xue Zhong, Yan Denise, Ling Jie, Feng Yo |
The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families. International journal of pediatric otorhinolaryngology 2019 12 130 109806. Liu Qin, Cheng Jing, Lu Yu, Zhou Jia, Wang Li, Yang Changliang, Yang Guang, Yang Hui, Cao Jingyuan, Zhang Zhao, Sun |
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 |
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 2020 1 8 (3): e1128. Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huiro |
De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs. Scientific reports 2022 9 12 (1): 15439. Haase B, Willet C E, Chew T, Samaha G, Child G, Wade C |
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- Page last updated:Apr 22, 2024
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