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Showing items 106-115 of 326  (33 Page(s) Totally)
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Institution Date Title Author
國立臺灣大學 2012 Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 曾凱元; 李妮鍾; 簡穎秀; 吳瑞美
國立臺灣大學 2012 PSORS2 Is Due to Mutations in CARD14 Jordan, Catherine T.; Cao, Li; Roberson, Elisha D. O.; Pierson, Katherine C.; Yang, Chi-Fan; Joyce, Cailin E.; Ryan, Caitriona; Duan, Shenghui; Helms, Cynthia A.; Liu, Yin; Chen, Yongqing; McBride, Alison A.; Hwu, Wuh-Liang; Wu, Jer-Yuarn; Chen, Yuan-Tsong; Menter, Alan; Goldbach-Mansky, Raphaela; Lowes, Michelle A.; Bowcock, Anne M.; 胡務亮
國立臺灣大學 2012 Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Hsu, Li-Wen; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟; 徐儷文
國立臺灣大學 2012 Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region Hwu, Wuh-Liang; Okuyama, Torayuki; But, Wai Man; Estrada, Sylvia; Gu, Xuefan; Hui, Joannie; Kosuga, Motomichi; Lin, Shuan-Pei; Ngu, Lock-Hock; Shi, Huiping; Tanaka, Akemi; Thong, Meow-Keong; Wattanasirichaigoon, Duangrurdee; Wasant, Pornswan; McGill, Jim; 胡務亮
國立臺灣大學 2012 Genome-Wide Gene Expression Analysis Implicates the Immune Response and Lymphangiogenesis in the Pathogenesis of Fetal Chylothorax Yeang, Chen-Hsiang; Ma, Gwo-Chin; Shih, Jin-Chung; Yang, Yu-Shih; Chen, Chih-Ping; Chang, Shun-Ping; Wu, Sheng-Hai; Liu, Chin-San; Kuo, Shou-Jen; Chou, Hung-Chieh; Hwu, Wuh-Liang; Cameron, Alan D.; Ginsberg, Norman A.; Lin, Yi-Shing; Chen, Ming; 楊友仕; 施景中; 胡務亮; 周弘傑; 陳明
國立臺灣大學 2012 A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child Liu, Hsin-Ming; Tsai, Li-Ping; Chien, Yin-Hsiu; Wu, Jia-Feng; Weng, Wen-Chin; Peng, Shinn-Forng; Wu, En-Ting; Huang, Pei-Hsin; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 吳恩婷; 吳嘉峰; 蔡宜蓉; 李旺祚; 李妮鍾; 簡穎秀; 黃佩欣; 翁妏謹
國立臺灣大學 2011 Monitoring Urinary Glucose Tetrasaccharide Biomarker in Patients with Infantile and Late-Onset Pompe Disease Identified through Newborn Screening 胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU
國立臺灣大學 2011 The Use of Dried Blood Spot Samples in the Diagnosis of Lysosomal Storage Disorders - Current Status and Perspectives 胡務亮; HWU, WUH-LIANG
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

Showing items 106-115 of 326  (33 Page(s) Totally)
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View [10|25|50] records per page