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Showing items 136-145 of 326  (33 Page(s) Totally)
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Institution Date Title Author
國立臺灣大學 2009 Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Gla Mutation C.936+919g > a (Ivs4+919g > a) 胡務亮; 簡穎秀; 李妮鍾; 蔣書娟; 黃愛珠; 葉慧, 英; 趙美琴; 林秀娟; 徐儷文; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; YEH, HUI-YING; CHAO, MEI-CHYN; LIN, SHIO-JEAN; HSU, LI-WEN
國立臺灣大學 2009 A Longitudinal Study of Taiwanese Sialidosis Type 1: An Insight into the Concept of Cherry-Red Spot Myoclonus Syndrome 賴思佳; 翁意欣; 胡務亮; 陸清松; LAI, SZU-CHIA; WENG, YI-HSIN; HWU, WUH- LIANG; LU, CHIN-SONG
國立臺灣大學 2009 Natural History of Niemann-Pick Disease Type C in a Multicentre Observational Retrospective Cohort Study 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2009 Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2009 Hyperammonemia and Positive Allopurinol Test in Hyperinsulinism- Hyperammonemia Syndrome: Taiwanese Case Report 林龍昌; 胡務亮; 楊瑞成; LIN, LUNG-CHANG; HWU, WUH-LIANG; YANG, REI-CHENG
國立臺灣大學 2009 Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 林炫沛; 莊志光; 陳銘仁; 蔡輔仁; 趙美琴; 林秀, 娟; 蔡立平; 胡務亮; 林如立; LIN, SHUAN-PEI; CHUANG, CHIH-KUANG; CHEN, MING-REN; TSAI, FUU-JEN; CHAO, MEI-CHYN; LIN, SHIO-JEAN; TSAI, LI-PING; HWU, WUH-LIANG; LIN, JU-LI
國立臺灣大學 2009 Caloric Restriction in Alstrom Syndrome Prevents Hyperinsulinemia 李妮鍾; 簡穎秀; 蔡文友; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; TSAI, WEN-YU; HWU, WUH-LIANG
國立臺灣大學 2009 Cryptic Subtelomeric Deletion Plus Inverted Duplication at Chromosome 18q in a Fetus: Molecular Delineation by Multicolor Banding 李妮鍾; 張舜評; 張正雄; 陳加祥; 李東杰; 林齊强; 胡務亮; 陳明; LEE, NI-CHUNG; CHANG, SHUN-PING; CHANG, CHENG-SHYONG; CHEN, CHIA-HSIANG; LEE, DONG-JAY; LIN, CHYI- CHYANG; HWU, WUH-LIANG; CHEN, MING
國立臺灣大學 2009 Eye Anomalies and Neurological Manifestations in Patients with Pax6 Mutations 簡穎瑄; 黃祥博; 胡務亮; 簡穎秀; 曾慶昌; 李妮鍾; CHIEN, YIN-HSUAN; HUANG, HSIANG-PO; HWU, WUH-LIANG; CHIEN, YIN-HSIU; TSENG, CHING-CHANG; LEE, NI-CHUNG
國立臺灣大學 2009 Glycogen Storage Disease Type Ib: The First Case in Taiwan 蕭惠如; 張修豪; 胡務亮; 林青雲; 李妮鍾; 簡穎秀; HSIAO, HUI-JU; CHANG, HSIU-HAO; HWU, WUH-LIANG; LAM, CHING-WAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU

Showing items 136-145 of 326  (33 Page(s) Totally)
<< < 9 10 11 12 13 14 15 16 17 18 > >>
View [10|25|50] records per page