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Showing items 226-250 of 326 (14 Page(s) Totally)
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| 國立臺灣大學 |
2005 |
Plasma Chitotriosidase Activity and Malaria
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2005 |
Type I Gaucher Disease with Exophthalmos and Pulmonary Arteriovenous Malformation
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胡務亮; 王主科; 簡穎秀; 陳俊安; HWU, WUH-LIANG; WANG, JOU-KOU; CHIEN, YIN-HSIU; CHEN, CHUN-AN |
| 國立臺灣大學 |
2005 |
Mapping of Psoriasis to 17q Terminus
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胡務亮; 范盛娟; 蔡呈芳; 簡穎秀; 蔣書娟; 鄔哲源; 陳垣崇; HWU, WUH-LIANG; FANN, CATHY SHENG-JIUAN; TSAI, TSEN-FANG; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; WU, JER-YUARN; CHEN, YUAN-TSONG |
| 國立臺灣大學 |
2005 |
Kif21a Gene C.2860c>T Mutation in Congenital Fibrosis of Extraocular Muscles Type 1 and 3
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林隆光; 簡穎秀; 鄔哲源; 王藹侯; 蔣書娟; 胡務亮; LIN, LUKE LONG-KUANG; CHIEN, YIN-HSIU; WU, JER-YUARN; WANG, AI-HOU; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Fundus Abnormalities in a Patient with Type I Gaucher's Disease with 12- Year Follow-Up
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王宗仁; 陳慕師; 施永豐; 胡務亮; 賴明陽; WANG, TSUNG-JEN; CHEN, MUH-SHY; SHIH, YUNG-FENG; HWU, WUH-LIANG; LAI, MING-YANG |
| 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
|
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 |
Showing items 226-250 of 326 (14 Page(s) Totally)
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