Hasil Pencarian - Zhuang-Zhuang Yuan

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  1. 1
    A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

    A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient oleh Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Liang-Liang Fan, Liang-Liang Fan, Zi-Chen Jiang, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2020-11-01
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  2. 2
    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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  3. 3
    Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

    Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome oleh Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu

    Diterbitkan 2023-05-01
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  4. 4
    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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  5. 5
    Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

    Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy oleh Liang-Liang Fan, Zhuang-Zhuang Yuan, Zi-Jun Jiao, Hui Zeng, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2022-11-01
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  6. 6
    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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  7. 7
    Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

    Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family oleh Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang, Li-Yang Zhang

    Diterbitkan 2020-05-01
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