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机构 日期 题名 作者
國立臺灣大學 2011 Slc25a13 Gene Mutations in Taiwanese Patients with Non-Viral Hepatocellular Carcinoma 張魁文; 陳慧玲; 簡穎秀; 陳澤卿; CHANG, KUEI-WEN; CHEN, HUEY-LING; CHIEN, YIN-HSIU; CHEN, TSE-CHING
國立臺灣大學 2010 Dysmyelination in Early-Treated Patients with Glutaric Aciduria Type 1 李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; HWU, WUH-LIANG
國立臺灣大學 2010 Complex Rearrangements between Chromosomes 6, 10, and 11 with Multiple Deletions at Breakpoints 李妮鍾; 陳明; 馬國欽; 李東杰; 王慈柔; 柯瑜媛; 簡穎秀; 胡務亮; LEE, NI-CHUNG; CHEN, MING; MA, GWO-CHIN; LEE, DONG-JAY; WANG, TZU-JOU; KE, YU-YUAN; CHIEN, YIN- HSIU; HWU, WUH-LIANG
國立臺灣大學 2010 Diagnoses of Newborns and Mothers with Carnitine Uptake Defects through Newborn Screening 李妮鍾; 鄧亮生; 簡穎秀; 陳俊安; 林秀娟; 邱寶琴; 黃愛珠; 胡務亮; LEE, NI-CHUNG; TANG, NELSON LEUNG-SANG; CHIEN, YIN- HSIU; CHEN, CHUN-AN; LIN, SHIO-JEAN; CHIU, PAO- CHIN; HUANG, AI-CHU; HWU, WUH-LIANG
國立臺灣大學 2010 Reduction in Imiglucerase Dosage Causes Immediate Rise of Chitotriosidase Activity in Patients with Gaucher Disease 簡穎秀; 李妮鍾; 蔡輔仁; 趙美琴; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; TSAI, FUU-JEN; CHAO, MEI-CHYN; HWU, WUH-LIANG
國立臺灣大學 2010 Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott- Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations 李文益; 黃璟隆; 江東和; 巫康熙; 簡穎秀; 張魁文; LEE, WEN-I; HUANG, JING-LONG; JAING, TANG-HER; WU, KANG-HSI; CHIEN, YIN-HSIU; CHANG, KUEI-WEN
國立臺灣大學 2010 Differences in the Predominance of Lysosomal and Autophagic Pathologies between Infants and Adults with Pompe Disease: Implications for Therapy 簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG
國立臺灣大學 2010 Enzymatic Activity of Methionine Adenosyltransferase Variants Identified in Patients with Persistent Hypermethioninemia 簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG
國立臺灣大學 2010 Genetic Heterozygosity and Pseudodeficiency in the Pompe Disease Newborn Screening Pilot Program 簡穎秀; 李妮鍾; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; HWU, WUH-LIANG
國立臺灣大學 2010 Nationwide Survey of Extended Newborn Screening by Tandem Mass Spectrometry in Taiwan 牛道明; 簡穎秀; 江傳箕; 何慧珍; 胡務亮; 蔣思慧; 高銓宏; 劉孜孜; 江宏; 蕭廣仁; NIU, DAU-MING; CHIEN, YIN-HSIU; CHIANG, CHUAN-CHI; HO, HUI-CHEN; HWU, WUH-LIANG; CHIANG, SZU-HUI; KAO, CHUAN-HONG; LIU, TZE-TZE; CHIANG, HUNG; HSIAO, KWANG-JEN

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