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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 601-625 of 770  (31 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2020-02-27T01:50:09Z Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification Huang H.-P. ;Chen P.-H. ;Hwu W.-L. ;Chuang C.-Y. ;Chien Y.-H. ;Stone L. ;Chung-Liang Chien ;Li L.-T. ;Chiang S.-C. ;Chen H.-F. ;Ho H.-N. ;Chen C.-H. ;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏 2020-02-26T07:30:05Z Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency Ho S.-Y; Chien Y.-H; Tsai L.-K; Muramatsu S.-I; Hwu W.-L; HORNG-HUEI LIOU; Lee N.-C.
臺大學術典藏 2020-02-25T08:01:46Z Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations Ruey-Meei Wu;Shan D.-E;Sun C.-M;Liu R.-S;Hwu W.-L;Tai C.-H;Hussey J;West A;Gwinn-Hardy K;Hardy J;Chen J;Farrer M;Lincoln S.; RUEY-MEEI WU; Shan D.-E; Sun C.-M; Liu R.-S; Hwu W.-L; Tai C.-H; Hussey J; West A; Gwinn-Hardy K; Hardy J; Chen J; Farrer M; Lincoln S.
臺大學術典藏 2020-02-25T08:01:45Z DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients Wang C.K;Wu Y.R;Hwu W.L;Chen C.M;Ro L.S;Chen S.T;Gwinn-Hardy K;Yang C.C;Ruey-Meei Wu;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; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; RUEY-MEEI WU; 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 2020-02-25T08:01:44Z Parkin mutations and early-onset parkinsonism in a Taiwanese cohort Ruey-Meei Wu;Bounds R;Lincoln S;Hulihan M;Lin C.-H;Hwu W.-L;Chen J;Gwinn-Hardy K;Farrer M.; RUEY-MEEI WU; Bounds R; Lincoln S; Hulihan M; Lin C.-H; Hwu W.-L; Chen J; Gwinn-Hardy K; Farrer M.
臺大學術典藏 2020-02-25T08:01:42Z Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism Lin C.-H; Hwu W.-L; Chiang S.-C; Tai C.-H; RUEY-MEEI WU
臺大學術典藏 2020-02-25T08:01:29Z Gene therapy for aromatic L-amino acid decarboxylase deficiency Hwu W.-L; Muramatsu S.-I; Tseng S.-H; Tzen K.-Y; Lee N.-C; Chien Y.-H; Snyder R.O; Byrne B.J; Tai C.-H; RUEY-MEEI WU
臺大學術典藏 2020-02-24T01:33:42Z Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Rey-Heng Hu;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; REY-HENG HU; Ho M.-C.; Niu D.-M.
臺大學術典藏 2020-02-19T09:34:00Z 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.;Ming-Chih Ho;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; MING-CHIH HO; Lee P.-H.; Hwu W.-L.
臺大學術典藏 2020-02-19T09:33:54Z Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation Chen P.W.; Hwu W.L.; MING-CHIH HO; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H.
臺大學術典藏 2020-02-19T09:33:39Z Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ming-Chih Ho;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; MING-CHIH HO; Niu D.-M.
臺大學術典藏 2020-02-17T08:07:05Z Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis YU-SHIH YANG; Ma G.-C; Shih J.-C; Chen C.-P; Chou C.-H; Yeh K.-T; Kuo S.-J; Chen T.-H; Hwu W.-L; Lee T.-H; Chen M.
臺大學術典藏 2020-02-17T08:07:04Z Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax Yeang C.-H; Ma G.-C; Shih J.-C; YU-SHIH YANG; Chen C.-P; Chang S.-P; Wu S.-H; Liu C.-S; Kuo S.-J; Chou H.-C; Hwu W.-L; Cameron A.D; Ginsberg N.A; Lin Y.-S; Chen M.
臺大學術典藏 2020-02-17T07:43:36Z Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification Huang H.-P; Chen P.-H; Hwu W.-L; Chuang C.-Y; Chien Y.-H; Stone L; Chien C.-L; Li L.-T; Chiang S.-C; Chen H.-F; HONG-NERNG HO; Chen C.-H; Kuo H.-C.
臺大學術典藏 2020-02-03T08:15:25Z 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.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.- M.; Hayashi K.
臺大學術典藏 2020-02-03T08:15:24Z Molecular genetic study of Pompe disease in Chinese patients in Taiwan Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.-M.; Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.-M.
臺大學術典藏 2020-02-03T08:15:05Z Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing Li S.-F.; Hwu W.-L.; Su C.-W.; Hsiao-Lin Hwa;Wu M.-Y.;Lee J.C.-I.;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.; HSIAO-LIN HWA; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.
臺大學術典藏 2020 Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing Li S.-F.; Hwu W.-L.; Su C.-W.; Hsu P.-M.; Yin H.-I.; JAMES CHUN-I LEE; Wu M.-Y.; Hwa H.-L.; Hwa H.-L.;Wu M.-Y.;James Chun-I Lee;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.
臺大學術典藏 2020 Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort CHIN-HSIEN LIN; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Lee B.-C.; Chen S.-J.; Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin
臺大學術典藏 2020 Complications of erythropoietin in navigated brain gene therapy: A case report Tseng S.-H.;Chun-Hwei Tai;Hwu W.-L.; Tseng S.-H.; CHUN-HWEI TAI; Hwu W.-L.
臺大學術典藏 2020 The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏 2020 Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏 2020 CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L.
臺大學術典藏 2020 Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan Chuang C.-K.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lin H.-Y.; Tan L.T.H.-C.; Lee C.-L.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Mei-Hwan Wu;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; MEI-HWAN WU; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.
臺大學術典藏 2020 Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center Lee C.-T.; Liu M.-Y.; Liu M.-Y.;Lee C.-T.;Lee N.-C.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Lee N.-C.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.

Showing items 601-625 of 770  (31 Page(s) Totally)
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