Case report and analysis: Behçet’s disease with lower extremity vein thrombosis and pseudoaneurysm

por Wang, Han-Lu, Zhang, Jian-Hui, Wu, Yi-Cheng, Lin, Jia-Li, Tang, Yi, Liao, Li-Sheng, Luo, Jie-Wei, Yu, Qing-Hua, Fang, Zhu-Ting
Publicado 2022

Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis

por Ruan, Dan-Dan, Gan, Yu-Mian, Lu, Tao, Yang, Xiao, Zhu, Yao-Bin, Yu, Qing-Hua, Liao, Li-Sheng, Lin, Ning, Qian, Xin, Luo, Jie-Wei, Tang, Fa-Qiang
Publicado 2020

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

por Shen, Ming-fang, Hu, Ya-nan, Chen, Wei-xiang, Liao, Li-sheng, Wu, Min, Wu, Qiu-yan, Zhang, Jian-hui, Zhang, Yan-ping, Luo, Jie-wei, Lin, Xin-fu
Publicado 2022

Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

por Wang, Ruo-li, Ruan, Dan-dan, Hu, Ya-nan, Gan, Yu-mian, Lin, Xin-fu, Fang, Zhu-ting, Liao, Li-sheng, Tang, Fa-qiang, He, Wu-bing, Luo, Jie-wei
Publicado 2022

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

por Gan, Yu-mian, Zhang, Yan-ping, Ruan, Dan-dan, Huang, Jian-bin, Zhu, Yao-bin, Lin, Xin-fu, Xiao, Xiao-ping, Cheng, Qiong, Geng, Zhen-bo, Liao, Li-sheng, Tang, Fa-qiang, Luo, Jie-wei
Publicado 2022

Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis

por Li, Shi-jie, Ruan, Dan-dan, Wu, Wei-zhen, Wu, Min, Wu, Qiu-yan, Wang, Han-lu, Ji, Yuan-yuan, Zhang, Yan-ping, Lin, Xin-fu, Fang, Zhu-ting, Liao, Li-sheng, Luo, Jie-wei, Gao, Mei-zhu, Wu, Jia-bin
Publicado 2023

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

por Wang, Han-lu, Ruan, Dan-dan, Wu, Min, Ji, Yuan-yuan, Hu, Xing-xing, Wu, Qiu-yan, Zhang, Yan-ping, Lin, Bin, Hu, Ya-nan, Wang, Hang, Tang, Yi, Fang, Zhu-ting, Luo, Jie-wei, Liao, Li-sheng, Gao, Mei-zhu
Publicado 2023