Hasil Pencarian - Xin-Fu Lin

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  1. 1
    Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

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

    Diterbitkan 2022-04-01
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  2. 2
    Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

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

    Diterbitkan 2022-05-01
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  3. 3
    In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

    In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism oleh 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

    Diterbitkan 2024-07-01
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  4. 4
    Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

    Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A oleh Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

    Diterbitkan 2022-01-01
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  5. 5
    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

    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 oleh 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

    Diterbitkan 2024-07-01
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  6. 6
    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

    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 oleh 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

    Diterbitkan 2022-06-01
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  7. 7
    A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

    A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1 oleh Yan-ping Zhang, Bin Lin, Yuan-yuan Ji, Ya-nan Hu, Xin-fu Lin, Yi Tang, Jian-hui Zhang, Shao-jie Wu, Sen-lin Cai, Yan-feng Zhou, Ting Chen, Zhu-ting Fang, Jie-wei Luo

    Diterbitkan 2021-09-01
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  8. 8
    Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis

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

    Diterbitkan 2023-10-01
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  9. 9
    Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

    Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation oleh Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

    Diterbitkan 2024-09-01
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  10. 10
    Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

    Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation oleh Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

    Diterbitkan 2024-04-01
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