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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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:26:32Z	A clinical observation of achondroplasia.	Wuh-Liang Hwu;Wang T.R.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	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.; Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	Measurement of urinary orotic acid by gas chromatography-mass spectrometry.	WUH-LIANG HWU; Chou S.P.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.	WUH-LIANG HWU; Chen R.L.; Lin K.H.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	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.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Tsai H.M.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:31Z	Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.	Hou J.W.; WUH-LIANG HWU; Tsai W.Y.; Lee J.S.; Wang T.R.; Lue H.C.
臺大學術典藏	2020-12-16T02:26:30Z	In Vitro DNA Methylation Inhibits FMR-1 Promoter	WUH-LIANG HWU; Lee Y.M.; Lee S.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:30Z	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.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Chou S.P.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:29Z	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.;Chang M.-H.;Chang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chang S.-M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:29Z	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.; Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Liu S.C.
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.

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