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zadetkov: 23
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  • 高通量测序技术在先天性脑积水基因诊断中的应用 高通量测序技术在先天性脑积水基因诊断中的应用
    潘蕾; 何志明; 张锐 国际生殖健康/计划生育杂志, 2019, Letnik: 38, Številka: 6
    Journal Article
    Recenzirano

    目的:探讨二代测序法(NGS)在先天性脑积水基因诊断中的应用.方法:收集一个脑积水家系,根据其临床特点和遗传规律,自主设计候选基因面板,用NGS对该家系进行基因突变检测.结果:先证者(Ⅲ5)检测出L1CAM基因6号外显子突变c.551G>A(p.Arg184Gln),未检测到AP1S2基因突变,其母亲(Ⅱ2)和2位姨妈(Ⅱ4和Ⅱ8)均为此突变携带者.结论:对于先天性脑积水胎儿,根据疾病的临床表型、遗传规律筛选可疑基因,进而设计基因面板,使用高通量测序进行快速检测,是明确病因、提高遗传病诊断效率的主要手段,有可能为这些家庭提供产前诊断和有效遗传咨询.
Celotno besedilo
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  • A research on applying enterprise knowledge management to the government performance audit of Taiwan
    何志明
    Dissertation

    碩士 國立彰化師範大學 商業教育學系在職進修專班 91 From the perspective of knowledge management by businesses, this study reviews the shortcomings of knowledge management of performance audit by our government. Through ...
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  • The New National Security Concept of the PRC
    Gih-Ming Ho; 何志明
    Dissertation

    碩士 國防管理學院 國防決策科學研究所 88 Abstract: The “New Security Concept” is a brand new national security concept developed by PRC in response to the current changes in the international situation. In contrast to ...
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8.
  • Viral infections and prolon... Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
    Huang, Hsiang-Po; Chien, Yin-Hsiu; Huang, Li-Min ... Journal of the Formosan Medical Association, 09/2005, Letnik: 104, Številka: 9
    Journal Article
    Recenzirano

    Liver transplantation could be a useful treatment for selected inborn errors of metabolism. This study evaluated the outcome and viral infections after liver transplantation in young children and ...
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  • Cloacogenic adenocarcinoma ... Cloacogenic adenocarcinoma of the vulva presenting as recurrent Bartholin's gland infection
    Liu, So-Haei; Ho, Chih-Ming; Huang, Shih-Hung ... Journal of the Formosan Medical Association 102, Številka: 1
    Journal Article
    Recenzirano

    Primary adenocarcinoma of the vulva of the cloacogenic type is extremely rare. We report the case of a 49-year-old patient with a 6-year history of recurrent left Bartholin's gland infection and a ...
Celotno besedilo
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  • The Impact of Subtype Distribution, Viral Loads Disparity and Physical Status of Human Papillomavirus on the Carcinogenesis of Cervical Cancer in Taiwanese Women
    Chih-Ming Ho; 何志明
    Dissertation

    博士 臺北醫學大學 醫學科學研究所 96 Accumulating evidence shows that tumor DNA can be found in the circulation of patients with cervical cancer. The presence of such tumor DNA in the blood may be of diagnostic and ...
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zadetkov: 23

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