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机构 日期 题名 作者
臺大學術典藏 2020-12-24T06:17:14Z Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:24Z Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.
臺大學術典藏 2020-12-18T02:21:59Z Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan Chien Y.-H.; Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Lu F.-L.;Wang-Tso Lee;Hwu W.-L.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; WANG-TSO LEE; Hwu W.-L.
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 2020-12-16T02:26:30Z 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 2020-12-16T02:26:23Z Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation Wuh-Liang Hwu;Suzuki Y.;Yang X.;Li X.;Chou S.-P.;Narisawa K.;Tsai W.-Y.; WUH-LIANG HWU; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; Tsai W.-Y.
臺大學術典藏 2020-12-16T02:26:21Z A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene. Wuh-Liang Hwu;Kobayashi K.;Hu Y.H.;Yamaguchi N.;Saheki T.;Chou S.P.;Wang J.H.; WUH-LIANG HWU; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H.
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 2020-12-16T02:26:15Z Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.
臺大學術典藏 2020-12-16T02:26:15Z Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.

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