臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	機構典藏計畫網站
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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:26:29Z	Fucosidosis in a Chinese girl	WUH-LIANG HWU; Chuang S.C.; Wang W.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:29Z	Cytogenetic study of mentally retarded children in Taipei	Wang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU; Wang T.-R.; Wuu K.-D.
臺大學術典藏	2020-12-16T02:26:29Z	Diagnosis of I-cell disease.	WUH-LIANG HWU; Chuang S.C.; Wang W.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:28Z	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Tsai S.Y.;Jeng Y.M.;Wuh-Liang Hwu;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; Jeng Y.M.; WUH-LIANG HWU; Ni Y.H.; Chang M.H.; Wang T.R.
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 Ia	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	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

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