Hasil Pencarian - Xiao-Hui Xie

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  1. 1
    Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

    Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report oleh Jun-Lin Yang, Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2024-05-01
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  2. 2
    Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

    Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain oleh Xiao-hui Xie, Jian-guang Tang, Zhong-hua Liu, Shui-jiao Peng, Zhuang-zhuang Yuan, Heng Gu, Yi-qiao Hu, Zhi-ping Tan

    Diterbitkan 2021-07-01
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  3. 3
    Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

    Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome oleh Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Heng Gu, Wei-Zhi Zhang, Yi-Qiao Hu, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2021-08-01
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