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機構 日期 題名 作者
臺大學術典藏 2018-09-10T07:43:15Z A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System Sung-Huai Hsieh,;Po-Hsun Cheng,;Sheau-Ling Hsieh,;Po-Hao Chen,;Yung-Ching Weng,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Po-Hsun Cheng,; Sheau-Ling Hsieh,; Po-Hao Chen,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI
臺大學術典藏 2018-09-10T07:43:15Z Newborn Screening System Based on Adaptive Feature Selection and Support Vector Machines Hsieh, Sung-Huai; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei; Hsieh, Sung-Huai; FEI-PEI LAI; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei
臺大學術典藏 2018-09-10T07:13:30Z Myopathy in Gaucher disease Chih-Chao Yang; Tsai, L.-K. and Chien, Y.-H. and Yang, C.-C. and Hwu, W.-L.; LI-KAI TSAI; YIN-HSIU CHIEN; WUH-LIANG HWU
臺大學術典藏 2018-09-10T07:09:39Z Web Services Based Newborn Screening System with Support Vector Machines Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Po-Hao Chen,; Hsing-Yu Chang,; Feipei Lai,; Wu-Liang Hwu,; FEI-PEI LAI
臺大學術典藏 2018-09-10T07:09:39Z An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI
臺大學術典藏 2018-09-10T07:09:39Z An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI
臺大學術典藏 2018-09-10T06:50:06Z Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency 陳弘文;陳慧玲;倪衍玄;李妮鍾;簡穎秀;胡務亮;黃淵德;邱寶琴;張美惠; Chen, H.-W. and Chen, H.-L. and Ni, Y.-H. and Lee, N.-C. and Chien, Y.-H. and Hwu, W.-L. and Huang, Y.-T. and Chiu, P.-C. and Chang, M.-H.; CHEN, HUNG-WEN;CHEN, HUEY-LING;NI, YEN- HSUAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU;HWU, WUH-LIANG;HUANG, YUAN-TE;CHIU, PAO-CHIN;CHANG, MEI-HWEI; NI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI
臺大學術典藏 2018-09-10T06:49:59Z Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program Chien, YH;Chiang, SC;Zhang, XK;Keutzer, J;Lee, NC;Huang, AC;Chen, CA;Wu, MH;Huang, PH;Tsai, FJ;Chen, YT;Hwu, WL; Chien, Y.-H. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Lee, N.-C. and Huang, A.-C. and Chen, C.-A. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; CHUN-AN CHEN; Chien, YH; Chiang, SC; NI-CHUNG LEE; MEI-HWAN WU; Zhang, XK; YIN-HSIU CHIEN; Keutzer, J; WUH-LIANG HWU; Lee, NC; Huang, AC; PEI-HSIN HUANG; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL
臺大學術典藏 2018-09-10T06:14:51Z Identification and management of cardiac perforation from a double lumen catheter in an infant [6] Wang, C.-C. and Chen, Y.-W. and Wu, E.-T. and Chien, Y.-H. and Hwu, W.-L. and Ko, W.-J. and Huang, S.-C.; CHING-CHIA WANG; YIN-HSIU CHIEN; SHU-CHIEN HUANG; WUH-LIANG HWU; EN-TING WU
臺大學術典藏 2018-09-10T06:14:36Z Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. SHYH-JYE CHEN; YIN-HSIU CHIEN; WUH-LIANG HWU; Chien, Y.H. and Lee, N.C. and Tsai, L.K. and Huang, A.C. and Peng, S.F. and Chen, S.J. and Hwu, W.L.; NI-CHUNG LEE; LI-KAI TSAI
臺大學術典藏 2018-09-10T05:46:37Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Lee, N.-C. and Chien, Y.-H. and Kobayashi, K. and Saheki, T. and Chen, H.-L. and Chiu, P.-C. and Ni, Y.-H. and Chang, M.-H. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWEI CHANG; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU
臺大學術典藏 2018-09-10T04:43:56Z Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis Su, Y.-N. and Lee, C.-N. and Chien, S.-C. and Hung, C.-C. and Chien, Y.-H. and Chen, C.-A.; CHI-AN CHEN; CHIEN-NAN LEE; YIN-HSIU CHIEN
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.
臺大學術典藏 2018 Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center Lin C.-J.; YIN-HSIU CHIEN; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; Hwu W.-L.; Wu C.-J.
臺大學術典藏 2018 Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS) Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Lin S.-P.
臺大學術典藏 2018 A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; YIN-HSIU CHIEN
臺大學術典藏 2017 Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial YIN-HSIU CHIEN; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏 2017 Newborn screening for severe combined immunodeficiency in Taiwan YIN-HSIU CHIEN; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L.
臺大學術典藏 2017 Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency He J.X.; Chen T.-X.; Chen X.Y.; Chan K.-W.; Lee P.P.; Mao H.; Wai Luk A.D.; YIN-HSIU CHIEN; Chin T.J.; Nguyen T.V.A.; Shek L.P.; Lee A.C.W.; Latiff A.H.A.; Rawat A.; Gupta A.; Singh S.; Daengsuwan T.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; Yu H.-H.; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L.
臺大學術典藏 2017 Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders Blom H.J.; Wedell A.; Bari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B.
臺大學術典藏 2017 Russell–Silver syndrome presenting with ambiguous genitalia Chang I.-F.; YIN-HSIU CHIEN; Tsai W.-Y.; Lee N.-C.
臺大學術典藏 2017 A review of Biomarkers for Alzheimer’s Disease in Down Syndrome Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2016 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏 2016 Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin H.-Y.; Chuang C.-K.; Wang C.-H.; YIN-HSIU CHIEN; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; Hwu W.-L.; Ke Y.-Y.; Lin S.-P.
臺大學術典藏 2016 Integrated care for Down syndrome Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.

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