Søgeresultater - Li-sheng Liao

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation af Ming-fang Shen, Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Wei-xiang Chen, Li-sheng Liao, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin

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A rare concurrence of monoclonal gammopathies in an older adult with tubulointerstitial nephritis and uveitis syndrome af Jian-hui Zhang, Jie Liu, Qian Chen, Dan-dan Ruan, Li-sheng Liao, Kai-ping Lin, Xiao-ling Zheng, Jie-wei Luo, Li Zhang

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Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome af Jian-Hui Zhang, Jian-Hui Zhang, Jie Liu, Jie Liu, Dan-Dan Ruan, Dan-Dan Ruan, Qian Chen, Qian Chen, Jie Yang, Jie Yang, Min Wu, Min Wu, Hong-Ping Yu, Hong-Ping Yu, Li-Sheng Liao, Li-Sheng Liao, Xiao-Ling Zheng, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang, Li Zhang

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant af Ruo-li Wang, Ruo-li Wang, Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Xin-fu Lin, Zhu-ting Fang, Zhu-ting Fang, Li-sheng Liao, Li-sheng Liao, Fa-qiang Tang, Fa-qiang Tang, Wu-bing He, Wu-bing He, Wu-bing He, Jie-wei Luo, Jie-wei Luo

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In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism af Dan-dan Ruan, Jing Zou, Li-sheng Liao, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Li Zhang, Mei-zhu Gao, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Yun-fei Li, Hong Li, Fan Lin, Fan Lin, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin

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A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification af Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie

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Case report and analysis: Behçet’s disease with lower extremity vein thrombosis and pseudoaneurysm af Han-Lu Wang, Jian-Hui Zhang, Yi-Cheng Wu, Jia-Li Lin, Yi Tang, Yi Tang, Li-Sheng Liao, Jie-Wei Luo, Qing-Hua Yu, Zhu-Ting Fang, Zhu-Ting Fang

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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription af Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo

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Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis af Shi-jie Li, Dan-dan Ruan, Wei-zhen Wu, Min Wu, Qiu-yan Wu, Han-lu Wang, Yuan-yuan Ji, Yan-ping Zhang, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Jie-wei Luo, Mei-zhu Gao, Jia-bin Wu

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Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency af Han-lu Wang, Dan-dan Ruan, Min Wu, Yuan-yuan Ji, Xing-xing Hu, Qiu-yan Wu, Yan-ping Zhang, Bin Lin, Ya-nan Hu, Hang Wang, Yi Tang, Zhu-ting Fang, Jie-wei Luo, Li-sheng Liao, Mei-zhu Gao

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A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity af Qian Chen, Zi-yan Xu, Wu Chi, Xiang Chen, Jing Zou, Ting Chen, Meng-qian Wu, Dan-dan Ruan, Hong-ping Yu, Jian-hui Zhang, Mei-zhu Gao, Li Zhang, Li-sheng Liao, Zhu-ting Fang, Fan Lin, Jie-wei Luo, Li Chen

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