第 1 到 51 筆結果,共 51 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 1999 | Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.- M.; Hayashi K. | Human Mutation | 0 | ||
2 | 1999 | Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations | WUH-LIANG HWU ; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG ; Wen W.-H.; Wang T.-R. | Journal of Inherited Metabolic Disease | 8 | 5 | |
3 | 1999 | 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case | Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S. | Acta Paediatrica Taiwanica | 3 | 0 | |
4 | 1999 | Neonatal type of nonketotic hyperglycinemia | FRANK LEIGH LU ; Wang P.-J.; WUH-LIANG HWU ; Tsou Yau K.-I.; Wang T.-R. | Pediatric Neurology | 38 | 27 | |
5 | 1999 | Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation | WUH-LIANG HWU ; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M. | Human Genetics | 35 | 28 | |
6 | 1999 | Molecular genetic study of Pompe disease in Chinese patients in Taiwan | TSANG-MING KO ; WUH-LIANG HWU ; Lin Y.-W.; LI-HUI TSENG ; HSIAO-LIN HWA ; Wang T.-R.; Chuang S.-M. | Human Mutation | 64 | ||
7 | 1999 | Allele distribution at the FMR1 locus in the general Chinese population | Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU | Clinical Genetics | 19 | 14 | |
8 | 1999 | Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation | Hsu Y.-S.; WUH-LIANG HWU ; Huang S.-F.; MENG-YAO LU ; Chen R.-L.; DONG-TSAMN LIN ; STEVEN SHINN-FORNG PENG ; KAI-HSIN LIN | Bone Marrow Transplantation | 56 | 39 | |
9 | 1998 | Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population | Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU ; Day K.-R.; Wang C.-K. | Journal of the Formosan Medical Association | 2 | 2 | |
10 | 1998 | Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease | STEVEN SHINN-FORNG PENG ; Li Y.-W.; WUH-LIANG HWU | Tzu Chi Medical Journal | 0 | ||
11 | 1998 | Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan | Su P.-H.; WUH-LIANG HWU ; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R. | Journal of the Formosan Medical Association | 1 | 1 | |
12 | 1998 | Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene | Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU ; Lam C.-W. | Human Genetics | 9 | 11 | |
13 | 1998 | The controversy regarding diagnostic criteria for early myoclonic encephalopathy | Wang P.-J.; WANG-TSO LEE ; WUH-LIANG HWU ; Young C.; Yau K.-I.T.; Shen Y.-Z. | Brain and Development | 23 | 12 | |
14 | 1998 | Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome | Tsai F.-J.; WUH-LIANG HWU ; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H. | Human Mutation | 2 | 0 | |
15 | 1997 | Ornithine transcarbamylase deficiency | Yeh S.-J.; WUH-LIANG HWU ; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R. | Journal of the Formosan Medical Association | 2 | 3 | |
16 | 1997 | FMR1 enhancer is regulated by cAMP through a cAMP-responsive element | WUH-LIANG HWU | DNA and Cell Biology | 30 | 28 | |
17 | 1997 | Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease | Wang P.-J.; WUH-LIANG HWU ; WANG-TSO LEE ; Wang T.-R.; Shen Y.-Z. | Pediatric Neurology | 32 | 27 | |
18 | 1996 | Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. | Tsai S.Y.; YUNG-MING JENG ; WUH-LIANG HWU ; YEN-HSUAN NI ; MEI-HWEI CHANG ; Wang T.R. | Journal of the Formosan Medical Association = Taiwan yi zhi | 8 | 3 | |
19 | 1996 | Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia | Wang T.-R.; Wang W.-P.; WUH-LIANG HWU ; Lee M.-L. | Human Mutation | 6 | ||
20 | 1996 | Diagnosis of mucopolysaccharidosis type IIIB | WUH-LIANG HWU | Acta Paediatrica Sinica | 1 | 0 | |
21 | 1996 | Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region | Tsai, C. H.; Tsai, F. J.; WUH-LIANG HWU ; Wang, T. R.; Shu, S. G.; Liu, S. C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | |||
22 | 1996 | Camptomelic dysplasia: report of one case | PO-NIEN TSAO ; Teng, R. J.; WUH-LIANG HWU ; Tsou Yau, K. I.; Wang, T. R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Mingu o xiao er ke yi xue hui | |||
23 | 1996 | Arylsulfatase A pseudodeficiency in Chinese | WUH-LIANG HWU ; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R. | Human Genetics | 6 | 4 | |
24 | 1996 | Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. | Tsai L.P.; Sue W.C.; WUH-LIANG HWU ; KAI-HSIN LIN ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 7 | 0 | |
25 | 1995 | Molecular diagnosis of Gaucher disease type II. | Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Liu S.C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
26 | 1995 | MPS I: Mutation and Polymorphism | Guey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG HWU ; Tso-Ren Wang | 師大生物學報 | 0 | ||
27 | 1995 | Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096)) | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chang S.-M.; Wang T.-R. | Human Molecular Genetics | 1 | ||
28 | 1995 | Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la | WUH-LIANG HWU ; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG ; Chuang S.-M.; Wang T.-R. | Human Molecular Genetics | 26 | 29 | |
29 | 1995 | 魏火曜兒科研究基金會教育課程-病例簡報-骨髓移植在Maroteux-Lamy症候群的應用 | 林文騰; 周獻堂; WUH-LIANG HWU ; 林凱信; 王作仁 | Acta Paediatrica Sinica | 0 | ||
30 | 1995 | Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene. | Tsai F.J.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R.; Shu S.G.; Liu S.C. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
31 | 1994 | Cytogenetic study of mentally retarded children in Taipei | Wang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU ; Wang T.-R.; Wuu K.-D. | Journal of Biomedical Science | 1 | 0 | |
32 | 1994 | Diagnosis of I-cell disease. | WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
33 | 1994 | Fucosidosis in a Chinese girl | WUH-LIANG HWU ; Chuang S.C.; Wang W.C.; Wang T.R. | Journal of Inherited Metabolic Disease | 2 | 2 | |
34 | 1994 | Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan | Wang P.-J.; Ko Y.-M.; Young C.; WUH-LIANG HWU ; Shen Y.-Z. | Brain and Development | 8 | 9 | |
35 | 1993 | Cardiovascular disorders in Turner's syndrome and its correlation to karyotype. | Hou J.W.; WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang T.R.; HUNG-CHI LUE | Journal of the Formosan Medical Association = Taiwan yi zhi | 22 | 0 | |
36 | 1993 | Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis. | Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Chou S.P.; Liu C.H. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 3 | 0 | |
37 | 1993 | Y-specific polymerase chain reaction for the interpretation of a chromosome marker. | Wang T.R.; WUH-LIANG HWU ; Hou J.W.; Tsai H.M.; Liu C.H. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
38 | 1993 | In Vitro DNA Methylation Inhibits FMR-1 Promoter | WUH-LIANG HWU ; Lee Y.M.; Lee S.C.; Wang T.R. | Biochemical and Biophysical Research Communications | 34 | 36 | |
39 | 1992 | Measurement of urinary orotic acid by gas chromatography-mass spectrometry. | WUH-LIANG HWU ; Chou S.P.; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 3 | 0 | |
40 | 1992 | DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5. | WUH-LIANG HWU ; Chen R.L.; KAI-HSIN LIN ; Wang T.R. | Journal of the Formosan Medical Association = Taiwan yi zhi | 0 | 0 | |
41 | 1992 | Transfusion‐acquired cytomegalovirus infection in children in a hyperendemic area | PING-ING LEE ; MEI-HWEI CHANG ; WUH-LIANG HWU ; CHUAN-LIANG KAO ; CHIN-YUN LEE | Journal of Medical Virology | 14 | 10 | |
42 | 1991 | Niemann-Pick disease type B with ocular involvement: report of a case. | Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 0 | 0 | |
43 | 1991 | A clinical observation of achondroplasia. | WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
44 | 1991 | Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. | WUH-LIANG HWU ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 2 | 0 | |
45 | 1991 | Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case. | WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang P.J.; Wang T.R. | Acta Paediatrica Sinica | 3 | 0 | |
46 | 1991 | Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA | Kuo F.C.; WUH-LIANG HWU ; Valle D.; Darnell Jr. J.E. | Proceedings of the National Academy of Sciences of the United States of America | 64 | 62 | |
47 | 1991 | Crisis in Gaucher disease simulating osteomyelitis: report of one case. | Lai Y.C.; WUH-LIANG HWU ; Wang T.R.; Hsieh K.H.; CHIN-YUN LEE ; Li Y.W. | Acta Paediatrica Sinica | |||
48 | 1989 | Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. | WUH-LIANG HWU ; Wang P.J.; Shen Y.Z. | Acta Paediatrica Sinica | 2 | 0 | |
49 | 1989 | A clinical study of intravenous immunoglobulin therapy for childhood idiopathic thrombocytopenic purpura | DONG-TSAMN LIN ; WUH-LIANG HWU ; KAI-HSIN LIN ; Lin K.-S. | Journal of the Formosan Medical Association | 1 | 0 | |
50 | 1989 | Alkaptonuria in a Chinese baby | Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 1 | 1 | |
51 | 1988 | Idiopathic inflammatory bowel disease in children and adolescents. | WUH-LIANG HWU ; MEI-HWEI CHANG ; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y. | Journal of the Formosan Medical Association | 2 | 0 |