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Showing items 61-85 of 143 (6 Page(s) Totally)
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Institution	Date	Title	Author
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.

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