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Showing items 636-660 of 770 (31 Page(s) Totally)
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| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
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Lee N.-C.; Chen S.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2019 |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Niu D.-M.; Ho M.-C.; Hu R.-H.; Liu C.-S.; Lin S.-P.; Lee N.-C.; Hwu W.-L.; Yang C.-F.; Lin N.-C.; Chiang C.-C.; Chu T.-H.; YIN-HSIU CHIEN; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J. |
| 臺大學術典藏 |
2019 |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
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Yu H.-H.; Hu T.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang Y.-H.; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2019 |
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
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de Meirleir L.; Matsumoto S.; De Laet C.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Cazorla A.G.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Additional individual contributors from E-IMD; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I. |
| 臺大學術典藏 |
2019 |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
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Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN; Lee N.-C. |
| 臺大學術典藏 |
2019 |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
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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
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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∗
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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
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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
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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
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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
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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))
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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
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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.
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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
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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.
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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
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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
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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
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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
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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.
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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.
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Hwu, W.L.;Chen, R.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN |
Showing items 636-660 of 770 (31 Page(s) Totally)
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View [10|25|50] records per page
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