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Taiwan Academic Institutional Repository >
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"hwu wuh liang"
Showing items 231-255 of 326 (14 Page(s) Totally)
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| 國立臺灣大學 |
2005 |
Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort
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吳瑞美; 林靜嫻; 胡務亮; WU, RUEY-MEEI; LIN, CHIN-HSIEN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype
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曾慶誠; 蔡立平; 胡務亮; 林秀娟; 趙美琴; 鐘育志; 朱紹盈; 呂謹立; TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI |
| 國立臺灣大學 |
2005 |
Reye's Syndrome Developing in an Infant on Treatment of Kawasaki Syndrome
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魏之明; 陳慧玲; 李秉穎; 陳中明; 馬君毅; 胡務亮; WEI, CHIH-MING; CHEN, HUEY-LING; LEE, PING-ING; CHEN, CHUNG-MING; MA, JUINE-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Adenoviral Interneuronal Transportation after Retrograde Gene Transfer in Mice
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蔡力凱; 蔡明勳; 徐松錕; 胡務亮; 李鴻; TSAI, LI-KAI; TSAI, MING-SHIUN; SHYUE, SONG-KUN; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2005 |
Six Novel Npc1 Mutations in Chinese Patients with Niemann–Pick Disease Type C
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楊智超; 蘇怡寧; 余家利; 胡務亮; 李銘仁; YANG, CHIH-CHAO; SU, YI-NING; YU, CHIA-LI; HWU, WUH-LIANG; LEE, MING-JEN |
| 國立臺灣大學 |
2004 |
Natural History of Infantile Onset Pompe Disease: Results from a Retrospective Chart Review Study
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Rnf4 Is a Coactivator for Nuclear Factor Y on Gtp Cyclohydrolase I Proximal Promoter
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胡務亮; 華國媛李玉梅; HWU, WUH-LIANG; HWA, KUO-YUAN; ROBERTO MANTOVANI; LEE, YU-MAY |
| 國立臺灣大學 |
2004 |
Detection of a Homozygous D645e Mutation of the Acid Alpha-Glucosidase Gene and Glycogen Deposition in Tissues in a Second-Trimester Fetus with Infantile Glycogen Storage Disease Type Ii
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陳持平; 林炫沛; 曾岐元; 蔡輔仁; 胡務亮; CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; TSAI, FUU-JEN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Distal Arthrogryposis in Two Sisters Born to Different Fathers
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胡務亮; 簡穎秀; 許嘉琪; HWU, WUH-LIANG; CHIEN, YIN-HSIU; HSU, CHIA-CHI |
| 國立臺灣大學 |
2004 |
DNA Haplotype Analysis of Cag Repeat in Taiwanese Huntington's Disease Patients
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胡務亮; 吳瑞美; 陳達夫; 邱銘章; 呂建榮; 李桂楨; HWU, WUH-LIANG; WU, RUEY-MEEI; CHEN, TA- FU; CHIU, MING-JANG; LU, CHIEN-JUNG; LEE, CHEN GUEY-JEN |
| 國立臺灣大學 |
2004 |
Molecular Chaperones Affect Gtp Cyclohydrolase I Mutations in Dopa- Responsive Dystonia
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胡務亮; 華國媛; 李玉梅; HWU, WUH-LIANG; HWA, KUO-YUAN; LEE, YU- MAY |
| 國立臺灣大學 |
2004 |
Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment
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彭信逢; 曾文毅; 簡穎秀; 胡務亮; 廖漢文; PENG, SHINN-FORNG; TSENG, WEN-YIH; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LIU, HON-MAN |
| 國立臺灣大學 |
2004 |
RNF4 Is a Coactivator for Nuclear Factor Y on GTP Cyclohydrolase I Proximal Promoter
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Wu, Sheng-Ming; Kuo, Wen-Chih; Hwu, Wuh-Liang; Hwa, Kuo-Yuan; Mantovani, Roberto; Lee, Yu-May |
| 國立臺灣大學 |
2004 |
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia
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Hwu, Wuh-Liang; Lu, Mei-Yi; Hwa, Kuo-Yuan; Fan, Shu-Wen; Lee, Yu-May |
| 國立臺灣大學 |
2004 |
Carbohydrate Deficient Glycoprotein Syndrome Type Ia
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朱凱麟; 簡穎秀; 蔡承恩; 胡務亮; CHU, KAI-LIN; CHIEN, YIN-HSIU; TSAI, CHEN-EN; HUDSON H. FREEZE; ERIK EKLUND; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
A Step-Wise Diagnosis of Fragile X Syndrome in Taiwan
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黃淵德; 蔣書娟; 曾慶誠; 劉敬萱; 簡穎秀; 胡務亮; HUANG, YUAN-TE; CHIANG, SHU-CHUAN; TZENG, CHING-CHERNG; LIU, CHING-HSUAN; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Poor Outcome for Neonatal-Type Nonketotic Hyperglycinemia Treated with High-Dose Sodium Benzoate and Dextromethorphan
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簡穎秀; 許嘉琪; 黃愛珠; 周西平; 呂立; 李旺祚; 胡務亮; CHIEN, YIN-HSIU; HSU, CHIA-CHI; HUANG, AI-CHU; CHOU, SHI-PING; LU, FRANK L; LEE, WANG-TSO; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Mutation Spectrum in Taiwanese Patients with Phenylalanine Hydroxylase Deficiency and a Founder Effect for the R241c Mutation
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簡穎秀; 蔣書娟; 黃愛珠; 周西平; 曾思珊; 黃淵德; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; CHOU, SHI-PING; TSENG, SZU-SAN; HUANG, YUAN-TE; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Phenylalanine Hydroxylase Deficiency: Interlligence of Patients after Early Dietary Treatment
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簡穎秀; 蔣書娟; 黃愛珠; 林京美; 丘彥南; 周西平; 王作仁; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; LIN, JING-MEEI; CHIU, YEN-NAN; CHOU, SHI-PING; WANG, TSO-REN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Trisomy 18 in Monozygotic Twins with Discordant Phenotypes
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李建德; 周弘傑; 曹伯年; 謝武勳; 胡務亮; LEE, JIAHN-TE; CHOU, HUNG-CHIEH; TSAO, PO-NIEN; HSIEH, WU-SHIUN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Neuropsychological Profiles of Three Cases of X-linked Adrenoleukodystrophy
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林希陶; 盧小蓉; 蘇淑貞; 胡務亮; 黃愛珠; 宋維村; LIN, SHI-TAO; LU, HSIAO-JUNG; SU, SHU-CHEN; HWU, WUH-LIANG; HUANG, AI-CHU; SOONG, WEI-TSUEN |
| 國立成功大學 |
2003-12 |
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese
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Huang, Yuan-Te; Chien, Yin-Hsiu; Yeh, Hui-Ying; Lin, Shio-Jean; Lu, Frank-Li; Chou, Shi-Ping; Lin, Jing-Meei; Chiang, Shu-Chuan; Hwu, Wuh-Liang |
| 國立臺灣大學 |
2003 |
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
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Kobayashi, Keiko; Lu, Yao Bang; Li, Meng Xian; Nishi, Ikumi; Hsiao, Kwang-Jen; Choeh, Kyuchul; Yang, Yanling; Hwu, Wuh-Liang; Reichardt, Juergen K.V.; Palmieri, Ferdinando; Okano, Yoshiyuki; Saheki, Takeyori |
| 國立臺灣大學 |
2003 |
Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case
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王正一; 胡務亮; WANG, CHENG-YI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Natural History of Infantile Onset Pompe Disease(Iopd): A Study Report
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胡務亮; HWU, WUH-LIANG |
Showing items 231-255 of 326 (14 Page(s) Totally)
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