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Showing items 121-145 of 458  (19 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2020-12-16T02:26:16Z Living-related liver transplantation for methylmalonic acidemia: Report of one case Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Lee P.-H.;Wuh-Liang Hwu; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; 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 Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells Wuh-Liang Hwu;Yeh H.-Y.;Fang S.-W.;Chiang H.-S.;Chiou Y.-W.;Lee Y.-M.; WUH-LIANG HWU; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M.
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 Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case Wang I.-J.;Chu S.-Y.;Wang C.-Y.;Wang P.-J.;Wuh-Liang Hwu; Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:14Z Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Lu F.-L.;Lee W.-T.;Wuh-Liang Hwu; Chien Y.-H.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:14Z Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. Chien Y.H.;Chiang S.C.;Huang A.;Chou S.P.;Tseng S.S.;Huang Y.T.;Wuh-Liang Hwu; Chien Y.H.; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:14Z Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lin S.-J.;Lu F.L.;Chou S.-P.;Lin J.-M.;Chiang S.-H.;Wuh-Liang Hwu; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lin S.-J.; Lu F.L.; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:13Z Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. Chien Y.H.;Wuh-Liang Hwu; Chien Y.H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:13Z Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. Chien Y.H.;Wuh-Liang Hwu;Ariga T.; Chien Y.H.; WUH-LIANG HWU; Ariga T.
臺大學術典藏 2020-12-16T02:26:13Z RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoter Wu S.-M.;Kuo W.-C.;Wuh-Liang Hwu;Hwa K.-Y.;Mantovani R.;Lee Y.-M.; Wu S.-M.; Kuo W.-C.; WUH-LIANG HWU; Hwa K.-Y.; Mantovani R.; Lee Y.-M.
臺大學術典藏 2020-12-16T02:26:13Z Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. Chien Y.H.;Wuh-Liang Hwu;Ariga T.; Chien Y.H.; WUH-LIANG HWU; Ariga T.
臺大學術典藏 2020-12-16T02:26:12Z Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case Wuh-Liang Hwu;Kuo P.-L.;Hung Y.-T.;Chien Y.-H.;Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Hung Y.-T.; Chien Y.-H.; Chu S.-Y.
臺大學術典藏 2020-12-16T02:26:12Z A step-wise diagnosis of fragile X syndrome in Taiwan Huang Y.-T.;Chiang S.-C.;Tzeng C.-C.;Liu C.-H.;Chien Y.-H.;Wuh-Liang Hwu; Huang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:12Z Detection of a homozygous D645E mutation of the acid α-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II [3] Chen C.-P.;Lin S.-P.;Tzen C.-Y.;Tsai F.-J.;Wuh-Liang Hwu;Wang W.; Chen C.-P.; Lin S.-P.; Tzen C.-Y.; Tsai F.-J.; WUH-LIANG HWU; Wang W.
臺大學術典藏 2020-12-16T02:26:12Z Distal Arthrogryposis in Two Sisters Born to Different Fathers [4] Wuh-Liang Hwu;Chien Y.-H.;Hsu C.-C.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.-C.
臺大學術典藏 2020-12-16T02:26:11Z Carbohydrate deficient glycoprotein syndrome type IA Chu K.-L.;Chien Y.-H.;Tsai C.-E.;Freeze H.H.;Eklund E.;Wuh-Liang Hwu; Chu K.-L.; Chien Y.-H.; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:11Z Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children Liang J.-S.;Lee W.-T.;Wuh-Liang Hwu;Peng S.S.-F.;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; Lee W.-T.; WUH-LIANG HWU; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z.
臺大學術典藏 2020-12-16T02:26:11Z Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia Wuh-Liang Hwu;Lu M.-Y.;Hwa K.-Y.;Fan S.-W.;Lee Y.-M.; WUH-LIANG HWU; Lu M.-Y.; Hwa K.-Y.; Fan S.-W.; Lee Y.-M.
臺大學術典藏 2020-12-16T02:26:11Z Trisomy 18 in monozygotic twins with discordant phenotypes Lee J.-T.;Chou H.-C.;Tsao P.-N.;Hsieh W.-S.;Wuh-Liang Hwu; Lee J.-T.; Chou H.-C.; Tsao P.-N.; Hsieh W.-S.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:11Z Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review Chu S.-Y.;Tsai W.-Y.;Chien Y.-H.;Fang J.-S.;Ku C.-W.;Chang P.-Y.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chien Y.-H.; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:10Z DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients Wang C.K.;Wu Y.R.;Wuh-Liang Hwu;Chen C.M.;Ro L.S.;Chen S.T.;Gwinn-Hardy K.;Yang C.C.;Wu R.M.;Chen T.F.;Wang H.C.;Chao M.C.;Chiu M.J.;Lu C.J.;Lee-Chen G.J.; Wang C.K.; Wu Y.R.; WUH-LIANG HWU; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; Chiu M.J.; Lu C.J.; Lee-Chen G.J.
臺大學術典藏 2020-12-16T02:26:10Z Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment Chien Y.-H.; WUH-LIANG HWU; Liu H.-M.; Peng S.S.-F.;Tseng W.-Y.I.;Chien Y.-H.;Wuh-Liang Hwu;Liu H.-M.; Peng S.S.-F.; Tseng W.-Y.I.
臺大學術典藏 2020-12-16T02:26:10Z Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan Chien Y.-H.;Wuh-Liang Hwu;Ariga T.;Chang K.-W.;Yang Y.-H.;Lin K.-H.;Chiang B.-L.; Chien Y.-H.; WUH-LIANG HWU; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L.
臺大學術典藏 2020-12-16T02:26:09Z Plasma chitotriosidase activity and malaria (multiple letters) Chien Y.-H.;Chen J.-H.;Wuh-Liang Hwu;Musumeci S.; Chien Y.-H.; Chen J.-H.; WUH-LIANG HWU; Musumeci S.

Showing items 121-145 of 458  (19 Page(s) Totally)
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