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

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations

por Zhang, Jian-hui, Ruan, Dan-dan, Hu, Ya-nan, Ruan, Xing-lin, Zhu, Yao-bin, Yang, Xiao, Wu, Jia-bin, Lin, Xin-fu, Luo, Jie-wei, Tang, Fa-qiang
Publicado 2021

Prevalence, Risk Factors, and Prognostic Factors of Primary Malignant Bone Neoplasms with Bone Metastasis at Initial Diagnosis: A Population-Based Study

por Xiao, Zheng-Wei, Guo, Hui-ling, Chen, Hong-chao, Yan, Lai-peng, Liao, Yi-lin, Li, Shu-lin, Zhao, Li-lan, Su, Ling-bo, Li, Jun-jie, Tang, Fa-qiang
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