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Showing items 286-326 of 326  (7 Page(s) Totally)
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Institution Date Title Author
國立臺灣大學 2000 Carnitine Transporter Defect Presenting with Hyperammonemia, Report of One Case 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2000 Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S 王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學 1999 Molecular Diagnosis of Apert Syndrome in Chinese Patients 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Dopa-Responsive Dystonia Induced by a Recessive Gtp Cyclohydrolase I 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Millington Ds (1999) 3-Hydroxy-3-Methylglutaric Aciduria Presenting with Reye Like Syndrome: Report of One Case 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1999 Hypercalcaemia in Glycogen Storage Disease Type Ia : A Case with R83h and 341delg Mutations 胡務亮; 張美惠; HWU, WUH-LIANG; CHANG, MEI-HWEI
國立臺灣大學 1999 Allele Distribution at the Fmr1 Locus in the General Chinese Population 王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學 1999 Niemann-Pick Disease Type C (a Cellular Cholesterol Lipidosis) Treated by Bone Marrow Transplantation 徐玉山; 胡務亮; 盧孟佑; 陳榮隆; 林東燦; 彭信逢; 林凱信; HSU, Y-S; HWU, WUH-LIANG; LU, MENG-YAO; CHEN, RONG-LONG; LIN, DONG-TSAMN; PENG, SHINN-FORNG; LIN, KAI-HSIN
國立臺灣大學 1999 Homozygous 341delg/101x of Gulcose-6-Phosphatase(G6pt) Gene Causes Glycogen Storage Disease Type Ia (Von Gierke Disease) in a Chinese Patient 柯滄銘; 胡務亮; KO, TSANG-MING; HWU, WUH-LIANG
國立臺灣大學 1999 Molecular Genetic Study of Pompe Disease in Chinese Patients in Taiwan 柯滄銘; 胡務亮; 林玉婉; 曾麗慧; 華筱玲; 王作仁; 莊壽洺; KO, TSANG-MING; HWU, WUH-LIANG; LIN, YU-WAN; TSENG, LI-HUI; HWA, HSIAO-LIN; WANG, TSO-REN; CHUANG, SOU-MING
國立臺灣大學 1999 Allele distribution at the FMR1 locus in the general Chinese population Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang
國立臺灣大學 1999 Neonatal type of nonketotic hyperglycinemia 呂立; 王本榮; 胡務亮; 鄒國英; 王作仁; LU, FRANK L; WANG, PEN-JUNG; HWU, WUH-LIANG; YAU KOU-INN, TSOU; WANG, TSO-REN
國立臺灣大學 1998 Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1998 Linkage Disequilibrium and Linkage Analysis of the Glucose-6-Phosphatase Gene 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1998 The Controversy Regaring Criteria for Early Myoclonic Encephalopathy 王本榮; 胡務亮; 楊千立; 鄒國英; 沈友仁; 李旺祚; WANG, PEN-JUNG; HWU, WUH-LIANG; YOUNG, CHAINLLIE; YAU, KOU-INN, TSOU; SHEN, YU-ZEN; LEE, WANG-TSO
國立臺灣大學 1998 Human Alpha-L-Iduronidase (Idua) Gene: Apparent Recombination in Intron 2 by Haplotype Analysis in a Taiwanese Population 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1998 Juvenile Huntington's Disease: Report of One Case 胡務亮; HWU, WUH-LIANG
國立臺灣大學 1996 Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia 王作仁; 王文炳; 胡務亮; 李明亮; WANG, TSO-REN; WANG, WEN-PING; HWU, WUH-LIANG; LEE, MING-LIANG
國立臺灣大學 1995 Cytogenetic Study of Mentally Retarded Children in Taipei Sheng, W. W.; Lai, Y. M.; 胡務亮; Wang, T. R.; Wuu, K. I.; Sheng, W. W.; Lai, Y. M.; Hwu, Wuh-Liang; Wang, T. R.; Wuu, K. I.
國立臺灣大學 1995 Glucose-6-phosphate Gene G327 is a Common Mutation in Chinese Patients with Glycogen Storage Disease Type I 胡務亮; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.; Hwu, Wuh-Liang; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.
國立臺灣大學 1994 Diagnosis of I-Cell Disease 胡務亮; 蔣書娟; 王文娟; 王作仁; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; WANG, WEN-CHUAN; WANG, TSO-REN
國立臺灣大學 1994 Hereditary Progressive Dystonia with Marked Diurnal Fluctuation (Segawa Syndrome) in Taiwan 王本榮; 楊千立; 胡務亮; 沈友仁; WANG, PEN-JUNG; KO, YOU-MIN; YOUNG, CHAINLLIE; HWU, WUH-LIANG; SHEN, YU-ZEN
國立臺灣大學 1994 Case Report:Fucosidosis in a Chinese Girl 胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, W. C.; Wang, T. R.
國立臺灣大學 1994 The Diagnosis of I-Cell Disease 胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, W. C.; Wang, T. R.
國立臺灣大學 1994 Y-Specific Polymerase Chain Reaction for the Interpretation of Chromosome Marker Wang, T. R.; 胡務亮; Hou, J. W.; Tsai, H. M.; Liu, C. H.; Wang, T. R.; Hwu, Wuh-Liang; Hou, J. W.; Tsai, H. M.; Liu, C. H.
國立臺灣大學 1993 Fragile X Mental Retardation:A Combination of Cytogenetic and Molecular Approaches with More Stress on DNA Analysis Wang, T. R.; 胡務亮; Hou, J. W.; Chou, S. P.; Liu, C. H.; Wang, T. R.; Hwu, Wuh-Liang; Hou, J. W.; Chou, S. P.; Liu, C. H.
國立臺灣大學 1993 In Vitro DNA Methylation Inhibits FMR-1 Promoter 胡務亮; Lee, Y. M.; Lee, S. C.; Wang, T. R.; Hwu, Wuh-Liang; Lee, Y. M.; Lee, S. C.; Wang, T. R.
國立臺灣大學 1993 Measurement of Urinary Orotic Acid by Gas Chromatography-Mass Spectrometry 胡務亮; Chou, S. P.; Wang, T. R.; Hwu, Wuh-Liang; Chou, S. P.; Wang, T. R.
國立臺灣大學 1992 Transfusion-Acquired Cytomegalovirus Infection in Children in a Hyperendemic Area 李秉穎; 張美惠; 胡務亮; 高全良; 李慶雲; LEE, PING-ING; CHANG, MEI-HWEI; HWU, WUH-LIANG; KAO, CHUAN-LIANG; LEE, CHIN-YUN
國立臺灣大學 1992 DNA Fingerprinting in the Chinese with an Oligonucleotide Probe (GTG) 林凱信; 陳榮隆; Wang, Tso-Renmin; Su, Ih-Jen; Lin, Kuo-Sin; 胡務亮; 林凱信; 陳榮隆; Wang, Tso-Renmin; Su, Ih-Jen; Lin, Kuo-Sin; Hwu, Wuh-Liang
國立臺灣大學 1992 Prader-Willi Syndrome with Chromosome 15 Intersitital Deletion:Report of a Case 胡務亮; Tsai, W. Y.; Lee, J. S.; Wang, P. J.; Wang, T. R.; Hwu, Wuh-Liang; Tsai, W. Y.; Lee, J. S.; Wang, P. J.; Wang, T. R.
國立臺灣大學 1991 Crisis in Gaucher Disease Simulating Osteomyelitis: Report of One Case 賴永章; 胡務亮; 王作仁; 謝貴雄; 李慶雲; 李瑤華; LAI, YUNG-CHANG; HWU, WUH-LIANG; WANG, TSO-REN; HSIEH, KUE-HSIUNG; LEE, CHIN-YUN; LI, YIU-WAH
國立臺灣大學 1991 COLOCALIZATION IN PERICENTRAL HEPATOCYTES IN ADULT MICE AND SIMILARITY IN DEVELOPMENTAL EXPRESSION PATTERN OF ORNITHINE AMINOTRANSFERASE AND GLUTAMINE SYNTHETASE IN mRNA 顧泉; 胡務亮; KUO, FRANK C; HWU, WUH-LIANG; VALLE D
國立臺灣大學 1991 A Clinical Observation in Achondroplasia 胡務亮; Wang, T. R.; Hwu, Wuh-Liang; Wang, T. R.
國立臺灣大學 1991 A Clinical Study in Intravenous Immunoglobulin Therapy for Childhood Idiopathic Chromobocytopenic Purpura Lin, D. T.; 胡務亮; Lin, K. H.; Lin, K. S.; Lin, D. T.; Hwu, Wuh-Liang; Lin, K. H.; Lin, K. S.
國立臺灣大學 1991 Colocalization in Pericentral Hepatocytes in Adult Mice and Similarity in Developmental Expression Pattern of Ornithine Aminotransferase and Glutamine Synthetase mRNA Kuo, F. C.; 胡務亮; Valle, D.; Darnell, J. E.; Kuo, F. C.; Hwu, Wuh-Liang; Valle, D.; Darnell, J. E.
國立臺灣大學 1991 Quantification of Arylsulfatase B Activity and the Diagnosis of Maroteaux-Lamy Syndrome 胡務亮; Wang, T. R.; Hwu, Wuh-Liang; Wang, T. R.
國立臺灣大學 1989 Alkaptonuria in a Chinese Baby Case Report Wang, T. R.; 胡務亮; Wang, T. R.; Hwu, Wuh-Liang
國立臺灣大學 1989 Hereditary Progressive Dystonia with Marked Diurnal Fluctuation:Report of A Case 王本榮; Shen, Y. Z.; 胡務亮; Wang, Pen-Jung; Shen, Y. Z.; Hwu, Wuh-Liang
國立臺灣大學 1989 Hereditary Progrressive Dystonia with Marked Diurnal Fluctuation, Report of a Case 胡務亮; Wang, P. J.; Shen, Y. Z.; Hwu, Wuh-Liang; Wang, P. J.; Shen, Y. Z.
國立臺灣大學 1989 Current Status of Detecting Fragible-X Syndrome Using Molecular Biology Techniques at the National Taiwan University Hospital Wang, Tso-Ren; 胡務亮; Hou, Jiawoei; Wang, Tso-Ren; Hwu, Wuh-Liang; Hou, Jiawoei

Showing items 286-326 of 326  (7 Page(s) Totally)
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