Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China von Luo, Hunjin, Wang, Jiqing, Chen, Junfeng, Yi, Huijian, Yang, Xiaodong, Peng, Yao, Ni, Liu, Yang, Yi-Qiong, Zhang, Xiao-Min, Huang, Hongping

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LEF-1 Regulates Tyrosinase Gene Transcription In Vitro von Wang, Xueping, Liu, Yalan, Chen, Hongsheng, Mei, Lingyun, He, Chufeng, Jiang, Lu, Niu, Zhijie, Sun, Jie, Luo, Hunjin, Li, Jiada, Feng, Yong

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A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene von Xu, Li, Peng, Zijuan, Zhou, Chunhui, Wang, Jiqing, Luo, Hunjin, Lu, Qin, Bao, Zhengjun

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Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2 von Sun, Jie, Hao, Ziqi, Luo, Hunjin, He, Chufeng, Mei, Lingyun, Liu, Yalan, Wang, Xueping, Niu, Zhijie, Chen, Hongsheng, Li, Jia-Da, Feng, Yong

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O-GlcNAcylation of BMAL1 regulates circadian rhythms in NIH3T3 fibroblasts von Ma, Yan-Tao, Luo, Hunjin, Guan, Wen-Juan, Zhang, Hua, Chen, Chongfen, Wang, Ziyao, Li, Jia-Da

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Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome von Luo, Hunjin, Ni, Liu, Yang, Yi-Qiong, Zhang, Xiao-Min, Huang, Hongping, Tan, Sainan, Ling, Chen, Liang, Li, Wang, Ling, Dan, Tang, Zhou, Shu-Xiang, Yang, Chunliu

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Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II von Zhang, Hua, Chen, Hongsheng, Luo, Hunjin, An, Jing, Sun, Lin, Mei, Lingyun, He, Chufeng, Jiang, Lu, Jiang, Wen, Xia, Kun, Li, Jia-Da, Feng, Yong

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Molecular analysis of resistance in a deltamethrin-resistant strain of Musca domestica from China von Qiu, Xinghui, Li, Mei, Luo, Hunjin, Fu, Tongsheng

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A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient von Luo, Hunjin, Zheng, Ruizhi, Zhao, Yaguang, Wu, Jiayu, Li, Jie, Jiang, Fang, Chen, Dan-Na, Zhou, Xiao-Tao, Li, Jia-Da

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Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2 von Zhang, Hua, Luo, Hunjin, Chen, Hongsheng, Mei, Lingyun, He, Chufeng, Jiang, Lu, Li, Jia-Da, Feng, Yong

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Genetic analysis of a family with metachromatic leukodystrophy von Luo, Hunjin, Zhou, Shu-Xiang, Li, Xu, Ni, Liu, Yang, Yi-Qiong, Zhang, Xiao-Min, Tan, Sainan

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Disease-causing Mutation in PKR2 Receptor Reveals a Critical Role of Positive Charges in the Second Intracellular Loop for G-protein Coupling and Receptor Trafficking von Peng, Zhen, Tang, Yong, Luo, Hunjin, Jiang, Fang, Yang, Jiannan, Sun, Lin, Li, Jia-Da

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LEF-1 Regulates Tyrosinase Gene Transcription In Vitro: e0143142 von Wang, Xueping, Liu, Yalan, Chen, Hongsheng, Mei, Lingyun, He, Chufeng, Jiang, Lu, Niu, Zhijie, Sun, Jie, Luo, Hunjin, Li, Jiada

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Studies on Pathogenesis of Waardenburg Syndrome Type II and Tietz Syndrome Resulting from MITF Gene Mutations von Hua, Zhang, Jiada, Li, Hunjin, Luo, Hongsheng, Chen, Lingyun, Mei, Chufeng, He, Lu, Jiang, Yong, Feng

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STUDIES ON PATHOGENESIS OF WAARDENBURG SYNDROME TYPE ⅡAND TIETZ SYNDROME RESULTING FROM MITF GENE MUTATIONS von ZHANG Hua, LI Jiada, LUO Hunjin, CHEN Hongsheng, MEI Lingyun, HE Chufeng, JIANG Lu, FENG Yong

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A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene von Xu, Li, Peng, Zijuan, Zhou, Chunhui, Wang, Jiqing, Luo, Hunjin, Lu, Qin, Bao, Zhengjun

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