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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Waardenburg Syndrome Type 4[original query]
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Molecular medicine reports 2016 Jan .
Chen Yong, Yang Fuwei, Zheng Hexin, Zhou Jianda, Zhu Ganghua, Hu Peng, Wu Weiji
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
Molecular medicine reports 2017 11 17 (1): 172-178.
Wang Li, Qin Litao, Li Tao, Liu Hongjian, Ma Lingcao, Li Wan, Wu Dong, Wang Hongdan, Guo Qiannan, Guo Liangjie, Liao Shix
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.
International journal of pediatric otorhinolaryngology 2017 11 102 114-118.
Wang Xueling, Lin Xiao-Jiang, Tang Xiangrong, Chai Yong-Chuan, Yu De-Hong, Chen Dong-Ye, Wu H
A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients.
International journal of molecular and cellular medicine 2018 9 7 (1): 17-23.
Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Yazdanpanah Mahboubeh, Darabi Elham, Bahrami Tayyeb, Zekri Ali, Noori-Daloii Mohammad Re
The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I.
International journal of ophthalmology 2019 9 12 (9): 1507-1509.
Cheng Huan-Huan, Ling Shi-Qi, Zhao Pei-Zhen, Li Wei-Li, Deng Ju
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
Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.
The Journal of international medical research 2020 11 48 (11): 300060520967540.
Liu Xiao-Wen, Wang Su-Yang, Xing Zhan-Kui, Zhu Yi-Ming, Ding Wen-Juan, Duan Lei, Cui Xiao, Xu Bai-Cheng, Li Shu-Juan, Guo Yu-F
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
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
Molecular syndromology 2021 8 12 (4): 244-249.
Li Ying, Xu Yajuan, Li Genxia, Chen Kang, Yu Haiyang, Gao Jinshuang, Tian Weifang, Liu Yuehua, Liu Pingping, Zhang Linlin, Zhang Zh
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
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