Hasil Pencarian - Dan‐Yan Zhuang

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  1. 1
    Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing

    Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing oleh Dan-Yan Zhuang, Shu-Xia Ding, Fei Wang, Xiang-Chun Yang, Xiao-Li Pan, You-Wei Bao, Li-ming Zhou, Hai-bo Li

    Diterbitkan 2022-01-01
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  2. 2
    Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

    Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome oleh Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li

    Diterbitkan 2024-03-01
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