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Journal of Human Genetics|March 31, 2017
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2Jie Sun, Ziqi Hao, Hunjin Luo, et al.
Plos One|March 29, 2016
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in ChinaHong Wu, Yong Feng, Lu Jiang, et al.
Gene|November 22, 2017
Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type IZhijie Niu, Jiada Li, Fen Tang, et al.
Human Genetics|October 4, 2011
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type IIHua Zhang, Hongsheng Chen, Hunjin Luo, et al.
Antioxidants & Redox Signaling|August 9, 2024
Asperuloside as a Novel NRF2 Activator to Ameliorate Endothelial Dysfunction in High Fat Diet-Induced Obese MiceChufeng He, Ruiwen Zhu, Lei He, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|September 17, 2020
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type IZhijie Niu, Lingyun Mei, Fen Tang, et al.
American Journal of Otolaryngology|April 15, 2022
Establishment of a risk index for early complications after trans-canal endoscopic ear surgeryMengzhu Jiang, Xinzhang Cai, Lu Jiang, et al.
International Journal of Pediatric Otorhinolaryngology|October 29, 2018
Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk familiesYuyuan Deng, Shushan Sang, Jie Wen, et al.
Scientific Reports|July 31, 2025
Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutationWei Gong, Lu Ma, Zhili Feng, et al.
Plos One|May 26, 2017
A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese familyZhijie Niu, Yong Feng, Lingyun Mei, et al.
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