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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Deafness and PAX3[original query]
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. GWAS Catalog
American journal of human genetics 2012 Mar 90 (3): 478-85.
Paternoster Lavinia, Zhurov Alexei I, Toma Arshed M, Kemp John P, St Pourcain Beate, Timpson Nicholas J, McMahon George, McArdle Wendy, Ring Susan M, Smith George Davey, Richmond Stephen, Evans David
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
A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.
Genetic testing and molecular biomarkers 2020 4 24 (5): 249-255.
Li Shuling, Guo Min, Ruan Biao, Liu Ya, Cui Xin, Han Weiwei, Li Ruom
A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.
International journal of pediatric otorhinolaryngology 2021 5 147 110758.
Guo Min, Li Qing, Jiang Chaowu, Li Shuling, Ruan Bi
Molecular etiology study of hearing loss in 13 Chinese Han families.
Frontiers in neurology 2022 12 13 1048218.
Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 .
Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi
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