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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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顯示項目 641-665 / 770 (共31頁)
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機構 日期 題名 作者
臺大學術典藏 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Pi-Chuan Fan;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; PI-CHUAN FAN; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.
臺大學術典藏 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Po-Nien Tsao;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; PO-NIEN TSAO; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
國立成功大學 2019 Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Yu, M.H.-C.;Tsang, M.H.-Y.;Lai, S.;Ho, M.S.-P.;Tse, D.M.L.;Willis, B.;Kwong, A.K.-Y.;Chou, Y.-Y.;Lin, S.-P.;Quinzii, C.M.;Hwu, W.-L.;Chien, Y.-H.;Kuo, P.-L.;Chan, V.C.-M.;Tsoi, C.;Chong, S.-C.;Rodenburg, Rodenburg R.J.T.;Smeitink, J.;Mak, C.C.-Y.;Yeung, K.-S.;Fung, J.L.-F.;Lam, W.;Hui, J.;Lee, N.-C.;Fung, C.-W.;Chung, B.H.-Y.
國立成功大學 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses∗ Wu, E.-T.;Hwu, W.-L.;Chien, Y.-H.;Hsu, C.;Chen, T.-F.;Chen, N.-Q.;Chou, H.-C.;Tsao, P.-N.;Fan, P.-C.;Tsai, I.-J.;Lin, S.-P.;Hsieh, W.-S.;Chang, T.-M.;Chen, Chen C.-N.;Lee, C.-H.;Chou, Y.-Y.;Chiu, P.-C.;Tsai, W.-H.;Hsiung, Hsiung H.-C.;Lai, F.;Lee, N.-C.
臺大學術典藏 2018-09-10T09:40:21Z Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C Huang, A. C.; Su, S. C.; Tseng, C. C.; Hwu, W. L.; �^�H�{; Chien, Y.H. and Peng, S.F. and Yang, C.C. and Lee, N.C. and Tsai, L.K. and Huang, A.C. and Su, S.C. and Tseng, C.C. and Hwu, W.L.; Chien, Y. H.;Peng, S. F.;Yang, C. C.;Lee, N. C.;Tsai, L. K.;Huang, A. C.;Su, S. C.;Tseng, C. C.;Hwu, W. L.; 胡務亮 ;楊智超 ;曾嫦嫦 ;彭信逢 ;蔡力凱 ;蘇淑貞 ;李妮鍾 ;黃愛珠 ;簡穎秀; NI-CHUNG LEE; Chien, Y. H.; LI-KAI TSAI; Peng, S. F.; YIN-HSIU CHIEN; Yang, C. C.; Lee, N. C.; WUH-LIANG HWU; Tsai, L. K.; Chih-Chao Yang
臺大學術典藏 2018-09-10T08:30:45Z A reliable password-based user authentication scheme for web-based human genome database system FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU; Chen, W.-H.; Wu, Z.-Y.; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU
臺大學術典藏 2018-09-10T07:47:00Z Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation Hsu, Y.-S.;Hwu, W.-L.;Huang, S.-F.;Lu, M.-Y.;Chen, R.-L.;Lin, D.-T.;Peng, S.S.F.;Lin, K.-H.; KAI-HSIN LIN
臺大學術典藏 2018-09-10T07:24:56Z Molecular genetic study of Pompe disease in Chinese patients in Taiwan Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang, S.-M.; LI-HUI TSENG; HSIAO-LIN HWA
臺大學術典藏 2018-09-10T07:24:56Z Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang S.-, M.;Hayashi, K.; LI-HUI TSENG; HSIAO-LIN HWA
臺大學術典藏 2018-09-10T07:12:49Z Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter Huang, S.-C.; Wu, E.-T.; Chiu, S.; Hwu, W.-L.; Wu, M.-H.; Wang, S.-S.; SHUENN-NAN CHIU; MEI-HWAN WU; SHOEI-SHEN WANG; SHU-CHIEN HUANG; WUH-LIANG HWU; EN-TING WU
臺大學術典藏 2018-09-10T06:06:32Z Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. Tsai, L.P.;Sue, W.C.;Hwu, W.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN
臺大學術典藏 2018-09-10T05:47:26Z Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma Tsai, C.-W.;Yang, C.-C.;Chen, H.-L.;Hwu, W.-L.;Wu, M.-Z.;Liu, K.-L.;Wu, M.-S.; Chih-Chao Yang
臺大學術典藏 2018-09-10T05:46:28Z Camptomelic dysplasia: report of one case. Tsao, P.N.;Teng, R.J.;Hwu, W.L.;Tsou Yau, K.I.;Wang, T.R.; PO-NIEN TSAO
臺大學術典藏 2018-09-10T05:32:20Z Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism Huang, H.-P.;Chien, Y.-H.;Huang, L.-M.;Ni, Y.-H.;Chang, M.-H.;Ho, M.-C.;Lee, P.-H.;Hwu, W.-L.; LI-MIN HUANG
臺大學術典藏 2018-09-10T05:03:01Z Trisomy 18 in monozygotic twins with discordant phenotypes Lee, J.-T.;Chou, H.-C.;Tsao, P.-N.;Hsieh, W.-S.;Hwu, W.-L.; WU-SHIUN HSIEH
臺大學術典藏 2018-09-10T05:02:49Z Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan Chien, Y.-H.;Hwu, W.-L.;Ariga, T.;Chang, K.-W.;Yang, Y.-H.;Lin, K.-H.;Chiang, B.-L.; KAI-HSIN LIN
臺大學術典藏 2018-09-10T04:43:58Z 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.;Hwu, W.-L.; WEN-YU TSAI
臺大學術典藏 2018-09-10T04:38:16Z Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells WUH-LIANG HWU;Hao-Sen Chiang;Lee, Y.-M.;Chiou, Y.-W.;Chiang, H.-S.;Fang, S.-W.;Yeh, H.-Y.;Hwu, W.-L.; Hwu, W.-L.; Yeh, H.-Y.; Fang, S.-W.; Chiang, H.-S.; Chiou, Y.-W.; Lee, Y.-M.; Hao-Sen Chiang; WUH-LIANG HWU
臺大學術典藏 2018-09-10T04:25:26Z Neonatal screening and monitoring system in Taiwan. Hwu, W.L.;Huang, A.C.;Chen, J.S.;Hsiao, K.J.;Tsai, W.Y.; WEN-YU TSAI
臺大學術典藏 2018-09-10T04:17:49Z DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5. Hwu, W.L.;Chen, R.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN
臺大學術典藏 2018-09-10T04:05:37Z Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study Chu, S.-Y.;Tsai, W.-Y.;Chen, L.-H.;Wei, M.-L.;Chien, Y.-H.;Hwu, W.-L.; WEN-YU TSAI
臺大學術典藏 2018-09-10T03:41:51Z Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case. Hwu, W.L.;Tsai, W.Y.;Lee, J.S.;Wang, P.J.;Wang, T.R.; WEN-YU TSAI
臺大學術典藏 2018-09-10T03:24:10Z Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation Hwu, W.-L.;Suzuki, Y.;Yang, X.;Li, X.;Chou, S.-P.;Narisawa, K.;Tsai, W.-Y.; WEN-YU TSAI
臺大學術典藏 2018 Biparental inheritance of mitochondrial DNA in humans Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; PI-CHUAN FAN; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏 2018 Biparental inheritance of mitochondrial DNA in humans YIN-HSIU CHIEN; Chen S.M.; Brown J.; Dell S.; Li Z.; Wang X.; Gui B.; Slone J.; Lee N.-C.; Zhang J.; Luo S.; Valencia C.A.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.

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