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    顯示項目81-90 / 274. (共28頁)
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    日期題名作者
    2007 Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly. (Chen RL); (Hou JW); (Chang PY); 蔡輔仁(Fuu-Jen Tsai); (Wang PJ)
    2009-03 Molecular analysis of Taiwanese patients with 3-Hydroxy-3-methylglutaryl CoA lyase deficiency 林瑋德(Wei-De Lin); 王仲興(Chung-Hsing Wang); 賴建成(Chien-Chen Lai); 蔡育勳(Yuhsin Tsai); 鄔哲源; 陳持平(Chih-Ping Chen); 蔡輔仁(Fuu-Jen Tsai)*
    2001-12 Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation 林瑋德(Wei-De Lin); 鄔哲源(Wu,Jer-Yuarn); 徐秀寶; 蔡輔仁(Tsai,Fuu-Jen)*; 李正淳(Lee,Chun-Cheng); 蔡長海
    2002-03 Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome (Wang TJ); (Huang CB); 蔡輔仁(Fuu-Jen Tsai); 鄔哲源; (Lai RB); (Hsiao M)
    2003-06 Mutation of IVS2-12A/C > G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. (Lee HH); (Chang SF); 蔡輔仁(Fuu-Jen Tsai); (Tsai LP); (Lin CY)
    2002 Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan 施怡如(Shi YR); 鄔哲源; (Hsu YA); 李正淳(Cheng-Chun Lee); 蔡長海(Chang-Hai Tsai); 蔡輔仁(Fuu-Jen Tsai)*
    2012-06 N-Acetyl-d-glucosamine 2-epimerase from Anabaena sp. CH1 contains a novel ATP-binding site required for catalytic activity 廖惠芬(Hui-Fen Liao); 高肇鴻(Chao-Hung Kao); 林瑋德(Wei-De Lin); 蕭乃文(Nai-Wan Hsiao); 許文輝(Wen-Hwei Hsu); 李晏忠(Yen-Chung Lee)*
    2009-11 A Novel Genetic Variant of BMP2K Contributes to High Myopia 劉心萍(Hsin-Ping Liu); 林應如(Ying-Ju Lin); 林維勇(Wei-Yong Lin); 萬磊(Lei Wan); 許晉銓(Jinn-Chyuan Sheu); 林慧茹(Hui-Ju Lin); 蔡育勳(Yuhsin Tsai); 蔡長海(Chang-Hai Tsai); 蔡輔仁(Fuu-Jen Tsai)*
    2008-10 Novel human pathological gene mutations- Gene symbol: LMX1B. Disease: Nail-patella syndrome 林瑋德(Wei-De Lin); 陳持平(Chih-Ping Chen); 王德源(Der-Yean Wang); 蔡輔仁(Fuu-Jen Tsai)*
    2008-02 Novel human pathological mutations 林瑋德(Wei-De Lin); 胡務亮; 劉素卿(Su-Ching Liu); 蔡輔仁(Fuu-Jen Tsai)*

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