| 臺大學術典藏 |
2020-12-16T02:26:28Z |
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.;Chang M.-H.;Chuang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:28Z |
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.; Tsai F.J.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Shu S.G.; Liu S.C. |
| 臺大學術典藏 |
2020-12-16T02:26:27Z |
Ornithine transcarbamylase deficiency
|
Yeh S.-J.;Wuh-Liang Hwu;Tsai W.-S.;Wu T.-J.;Tuchman M.;Wang T.-R.; Yeh S.-J.; WUH-LIANG HWU; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:27Z |
Arylsulfatase A pseudodeficiency in Chinese
|
Wuh-Liang Hwu;Tsai L.-P.;Wang W.-C.;Chuang S.-C.;Wang P.-J.;Wang T.-R.; WUH-LIANG HWU; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:27Z |
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.; Wang T.-R.; Wang W.-P.; WUH-LIANG HWU; Lee M.-L. |
| 臺大學術典藏 |
2020-12-16T02:26:26Z |
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. |
| 臺大學術典藏 |
2020-12-16T02:26:26Z |
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. |
| 臺大學術典藏 |
2020-12-16T02:26:26Z |
Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
|
Wang P.-J.;Wuh-Liang Hwu;Lee W.-T.;Wang T.-R.;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Lee W.-T.; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2020-12-16T02:26:25Z |
Allele distribution at the FMR1 locus in the general Chinese population
|
Chiang S.-C.;Lee Y.-M.;Wang T.-R.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:25Z |
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. |
| 臺大學術典藏 |
2020-12-16T02:26:25Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.;Wuh-Liang Hwu;Lin Y.-W.;Tseng L.-H.;Hwa H.-L.;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; WUH-LIANG HWU; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2020-12-16T02:26:24Z |
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.; Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU; Wang T.-R.; Millington D.S. |
| 臺大學術典藏 |
2020-12-16T02:26:24Z |
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.; WUH-LIANG HWU; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M. |
| 臺大學術典藏 |
2020-12-16T02:26:24Z |
Neonatal type of nonketotic hyperglycinemia
|
Lu F.L.;Wang P.-J.;Wuh-Liang Hwu;Tsou Yau K.-I.;Wang T.-R.; Lu F.L.; Wang P.-J.; WUH-LIANG HWU; Tsou Yau K.-I.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:23Z |
Carnitine transport defect presenting with hyperammonemia: Report of one case
|
Wuh-Liang Hwu;Chiang S.-C.;Chang M.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Chang M.-H.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:23Z |
Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations
|
Wuh-Liang Hwu;Chiang S.-C.;Huang S.-F.;Chang M.-H.;Wen W.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Huang S.-F.; Chang M.-H.; Wen W.-H.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:23Z |
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
|
Chiang S.-C.;Lee Y.-M.;Chang M.-H.;Wang T.-R.;Ko T.-M.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Chang M.-H.; Wang T.-R.; Ko T.-M.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:22Z |
Congenital contractural arachnodactyly (Beals syndrome)
|
Su P.-H.;Hou J.-W.;Wuh-Liang Hwu;Wu M.-H.;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; WUH-LIANG HWU; Wu M.-H.; Wang J.-K.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-16T02:26:22Z |
Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S
|
Teng Y.N.;Wang T.R.;Wuh-Liang Hwu;Lin S.P.;Lee-Chen G.J.; Teng Y.N.; Wang T.R.; WUH-LIANG HWU; Lin S.P.; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-12-16T02:26:20Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
Chien Y.-H.;Chiang S.-C.;Huang A.;Lin J.-M.;Chiu Y.-N.;Chou S.-P.;Chu S.-Y.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:19Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Chien Y.-H.;Peng S.-F.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Peng S.-F.; Wang T.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:26:09Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
Chien Y.-H.;Chiang S.-C.;Huang A.;Lin J.-M.;Chiu Y.-N.;Chou S.-P.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-09T05:58:48Z |
Neonatal type of nonketotic hyperglycinemia
|
Frank Leigh Lu;Wang P.-J.;Hwu W.-L.;Tsou Yau K.-I.;Wang T.-R.; FRANK LEIGH LU; Wang P.-J.; Hwu W.-L.; Tsou Yau K.-I.; Wang T.-R. |
| 臺大學術典藏 |
2020-12-08T03:29:03Z |
Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome
|
Frank Leigh Lu;Hou J.-W.;Tsai W.-S.;Teng R.-J.;Yau K.-I.T.;Wang T.-R.; FRANK LEIGH LU; Hou J.-W.; Tsai W.-S.; Teng R.-J.; Yau K.-I.T.; Wang T.-R. |
| 臺大學術典藏 |
2020-11-03T12:21:49Z |
Neuronal firing patterns outweigh circuitry oscillations in parkinsonian motor control
|
Wang Y.-M.; Liu W.-C.; Wang T.-R.; Lai W.-S.; Kuo C.-C.; Pei J.-C.; Chang C.-Y.; Liou J.-Y.; Kuo S.-H.; CHUN-HWEI TAI; Pan M.-K. |
| 臺大學術典藏 |
2020-11-03T12:21:46Z |
Author Correction: Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders (Scientific Reports, (2020), 10, 1, (8278), 10.1038/s41598-020-65211-w)
|
Chun-Hwei Tai;Pan M.-K.;Tseng S.-H.;Wang T.-R.;Kuo C.-C.; CHUN-HWEI TAI; Pan M.-K.; Tseng S.-H.; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2020-11-03T12:21:46Z |
Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders
|
Chun-Hwei Tai;Pan M.-K.;Tseng S.-H.;Wang T.-R.;Kuo C.-C.; CHUN-HWEI TAI; Pan M.-K.; Tseng S.-H.; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:19Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Hwu W.-L.; Wang T.-R.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Chien Y.-H.;Steven Shinn-Forng Peng;Wang T.-R.;Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:54Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Chien Y.-H.; Peng S.-F.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-08-21T08:51:30Z |
Kleine-Levin syndrome in a boy with Prader-Willi syndrome
|
Gau S.-F.;Soong W.-T.;Hon-Man Liu;Hou J.-W.;Tsai W.-Y.;Chiu Y.-N.;Yeh Y.-C.;Wang P.-J.;Wang T.-R.; Gau S.-F.; Soong W.-T.; HON-MAN LIU; Hou J.-W.; Tsai W.-Y.; Chiu Y.-N.; Yeh Y.-C.; Wang P.-J.; Wang T.-R. |
| 臺大學術典藏 |
2020-07-10T08:17:36Z |
Neuronal firing patterns outweigh circuitry oscillations in parkinsonian motor control
|
Pan, M.-K.; Kuo, S.-H.; Tai, C.-H.; Liou, J.-Y.; Pei, J.-C.; Chang, C.-Y.; Wang, Y.-M.; Liu, W.-C.; Wang, T.-R.; Lai, W.-S.; Kuo, C.-C.; WEN-SUNG LAI; Pan, M.-K.;Kuo, S.-H.;Tai, C.-H.;Liou, J.-Y.;Pei, J.-C.;Chang, C.-Y.;Wang, Y.-M.;Liu, W.-C.;Wang, T.-R.;Lai, W.-S.;Kuo, C.-C. |
| 臺大學術典藏 |
2020-06-30T07:15:18Z |
Author Correction: Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders (Scientific Reports, (2020), 10, 1, (8278), 10.1038/s41598-020-65211-w)
|
Tai C.-H.;Pan M.-K.;Tseng S.-H.;Wang T.-R.;Chung-Chin Kuo; Tai C.-H.; Pan M.-K.; Tseng S.-H.; Wang T.-R.; Chung-Chin Kuo |
| 臺大學術典藏 |
2020-06-30T07:15:18Z |
Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders
|
Tai C.-H.;Pan M.-K.;Tseng S.-H.;Wang T.-R.;Chung-Chin Kuo; Tai C.-H.; Pan M.-K.; Tseng S.-H.; Wang T.-R.; Chung-Chin Kuo |
| 臺大學術典藏 |
2020-06-29T01:39:39Z |
Author Correction: Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders (Scientific Reports, (2020), 10, 1, (8278), 10.1038/s41598-020-65211-w)
|
Tai C.-H.;Ming-Kai Pan;Tseng S.-H.;Wang T.-R.;Kuo C.-C.; Tai C.-H.; MING-KAI PAN; Tseng S.-H.; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2020-06-29T01:39:39Z |
Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders
|
Tai C.-H.;Ming-Kai Pan;Tseng S.-H.;Wang T.-R.;Kuo C.-C.; Tai C.-H.; MING-KAI PAN; Tseng S.-H.; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2020-03-06T08:25:45Z |
Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.
|
Tsai S.Y.;Yung-Ming Jeng;Hwu W.L.;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; YUNG-MING JENG; Hwu W.L.; Ni Y.H.; Chang M.H.; Wang T.R. |
| 臺大學術典藏 |
2020-03-05T01:18:02Z |
Neuronal firing patterns outweigh circuitry oscillations in parkinsonian motor control
|
Pan M.-K.; Kuo S.-H.; CHUN-HWEI TAI; Liou J.-Y.; Pei J.-C.; Chang C.-Y.; Wang Y.-M.; Liu W.-C.; Wang T.-R.; Lai W.-S.; Kuo C.-C. |
| 臺大學術典藏 |
2020-03-02T03:11:31Z |
Kleine-Levin syndrome in a boy with Prader-Willi syndrome
|
Susan Shur-Fen Gau;Soong W.-T.;Liu H.-M.;Hou J.-W.;Tsai W.-Y.;Chiu Y.-N.;Yeh Y.-C.;Wang P.-J.;Wang T.-R.; SUSAN SHUR-FEN GAU; Soong W.-T.; Liu H.-M.; Hou J.-W.; Tsai W.-Y.; Chiu Y.-N.; Yeh Y.-C.; Wang P.-J.; Wang T.-R. |
| 臺大學術典藏 |
2020-02-19T01:36:03Z |
Human sperm chromosome analysis in primary infertility: a preliminary report.
|
Lin S.J;Hsu C.C;Yih-Ron Lien;Yang Y.S;Wang T.R;Chuang S.M;Lee T.Y.; Lin S.J; Hsu C.C; YIH-RON LIEN; Yang Y.S; Wang T.R; Chuang S.M; Lee T.Y. |
| 臺大學術典藏 |
2020-02-17T08:07:45Z |
Human sperm chromosome analysis in primary infertility: a preliminary report.
|
Lin S.J; Hsu C.C; Lien Y.R; YU-SHIH YANG; Wang T.R; Chuang S.M; Lee T.Y. |
| 臺大學術典藏 |
2020-02-03T08:15:30Z |
Maternal and fetal outcome of pregnant women with idiopathic thrombocytopenic purpura: retrospective analysis of 25 pregnancies.
|
Hsiao-Lin Hwa;Chen R.J.;Chen Y.C.;Wang T.R.;Huang S.C.;Chow S.N.; HSIAO-LIN HWA; Chen R.J.; Chen Y.C.; Wang T.R.; Huang S.C.; Chow S.N. |
| 臺大學術典藏 |
2020-02-03T08:15:25Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2020-02-03T08:15:24Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.-M.; Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.-M. |
| 臺大學術典藏 |
2018-09-10T07:33:03Z |
Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: Report of one case
|
Lin, S.-C.;Hu, F.-R.;Hou, J.-W.;Yao, Y.-T.;Wang, T.-R.;Hung, P.-T.; FUNG-RONG HU |
| 臺大學術典藏 |
2018-09-10T07:24:56Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang, S.-M.; LI-HUI TSENG; HSIAO-LIN HWA |
| 臺大學術典藏 |
2018-09-10T07:24:56Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang S.-, M.;Hayashi, K.; LI-HUI TSENG; HSIAO-LIN HWA |
| 臺大學術典藏 |
2018-09-10T07:22:20Z |
Detection of KAL-1 gene deletion with fluorescence in situ hybridization
|
Hou, J.-W.;Tsai, W.-Y.;Wang, T.-R.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T06:14:53Z |
CATCH 22: Deletion of locus 22Q11 in velocardiofacial syndrome, digeorge anomaly, and nonsyndromic conotruncal defects
|
Hou, J.-W.;Wang, J.-K.;Tsai, W.-Y.;Chou, C.-C.;Wang, T.-R.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T06:14:53Z |
Partial DiGeorge anomaly associated with 10p deletion
|
Hsu, H.-L.;Hsiao, P.-H.;Hou, J.-W.;Tsai, W.-Y.;Wang, T.-R.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T06:06:32Z |
Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
|
Tsai, L.P.;Sue, W.C.;Hwu, W.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN |
