Výsledky vyhledávání - Lin, Xin-Fu
- Zobrazuji výsledky 1 - 9 z 9
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Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations Autor 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
Vydáno 2021Text -
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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A Autor Zhu, Yao-Bin, Zhang, Jian-Hui, Ji, Yuan-Yuan, Hu, Ya-Nan, Wang, Han-Lu, Ruan, Dan-Dan, Meng, Xiao-Rong, Lin, Xin-Fu, Luo, Jie-Wei, Chen, Wei
Vydáno 2022Text -
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Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation Autor 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
Vydáno 2022Text -
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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant Autor 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
Vydáno 2022Text -
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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 Autor 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
Vydáno 2022Text -
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A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1 Autor Zhang, Yan-ping, Lin, Bin, Ji, Yuan-yuan, Hu, Ya-nan, Lin, Xin-fu, Tang, Yi, Zhang, Jian-hui, Wu, Shao-jie, Cai, Sen-lin, Zhou, Yan-feng, Chen, Ting, Fang, Zhu-ting, Luo, Jie-wei
Vydáno 2021Text