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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
臺大學術典藏 2020-02-17T07:43:41Z Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome Hung C.-C; Lin S.-Y; Lee C.-N; Cheng H.-Y; Lin S.-P; Chen M.-R; Chen C.-P; Chang C.-H; Lin C.-Y; Yu C.-C; Chiu H.-H; Cheng W.-F; HONG-NERNG HO; Niu D.-M; Su Y.
臺大學術典藏 2020-02-17T07:43:41Z Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis Hung C.-C;Lin S.-Y;Lee C.-N;Cheng H.-Y;Lin C.-Y;Chang C.-H;Chiu H.-H;Yu C.-C;Lin S.-P;Cheng W.-F;Hong-Nerng Ho;Niu D.-M;Su Y.-N.; Hung C.-C; Lin S.-Y; Lee C.-N; Cheng H.-Y; Lin C.-Y; Chang C.-H; Chiu H.-H; Yu C.-C; Lin S.-P; Cheng W.-F; HONG-NERNG HO; Niu D.-M; Su Y.-N.
臺大學術典藏 2020-02-17T07:43:39Z Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome Lin S.-Y; Lee C.-N; Hung C.-C; Tsai W.-Y; Lin S.-P; Li N.-C; Hsieh W.-S; Tung Y.-C; Niu D.-M; Hsu W.-M; Chen L.-Y; Fang M.-Y; Tu M.-P; Kuo P.-W; Lin C.-Y; Su Y.-N; HONG-NERNG HO
臺大學術典藏 2020-02-17T07:43:36Z A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity Lin S.-Y; Hsieh S.-C; Lin Y.-C; Lee C.-N; Tsai M.-H; Lai L.-C; Chuang E.Y; Chen P.-C; Hung C.-C; Chen L.-Y; Hsieh W.S; Niu D.-M; Su Y.-N; HONG-NERNG HO
臺大學術典藏 2020-02-14T02:50:03Z Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; Lee N.-C.; WEN-FANG CHENG; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.
臺大學術典藏 2020-02-14T02:50:02Z Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin S.-P.; Chen M.-R.; Chen C.-P.; Chang C.-H.; Lin C.-Y.; Yu C.-C.; Chiu H.-H.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.
臺大學術典藏 2020-02-14T02:50:02Z Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin C.-Y.; Chang C.-H.; Chiu H.-H.; Yu C.-C.; Lin S.-P.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.-N.
臺大學術典藏 2020-02-12T04:06:04Z Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis Su Y.-N.;Niu D.-M;Ho H.-N;Cheng W.-F;Lin S.-P;Yu C.-C;Chiu H.-H;Chang C.-H;Lin C.-Y;Cheng H.-Y;CHIEN-NAN LEE;Lin S.-Y;Hung C.-C; Hung C.-C; Lin S.-Y; CHIEN-NAN LEE; Cheng H.-Y; Lin C.-Y; Chang C.-H; Chiu H.-H; Yu C.-C; Lin S.-P; Cheng W.-F; Ho H.-N; Niu D.-M; Su Y.-N.
臺大學術典藏 2020-02-12T04:06:04Z Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR Lin S.-P; Niu D.-M; Lee N.-C; Cheng W.-F; Chen C.-P; Lin W.-L; CHIEN-NAN LEE; Su Y.-N.; Su Y.-N.;CHIEN-NAN LEE;Lin W.-L;Chen C.-P;Cheng W.-F;Lee N.-C;Niu D.-M;Lin S.-P;Lin S.-Y;Hung C.-C; Hung C.-C; Lin S.-Y
臺大學術典藏 2020-02-12T04:06:00Z Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome Ho H.-N.;Su Y.-N;Lin C.-Y;Kuo P.-W;Tu M.-P;Fang M.-Y;Chen L.-Y;Hsu W.-M;Niu D.-M;Tung Y.-C;Hsieh W.-S;Li N.-C;Lin S.-P;Tsai W.-Y;Hung C.-C;CHIEN-NAN LEE;Lin S.-Y; Lin S.-Y; CHIEN-NAN LEE; Hung C.-C; Tsai W.-Y; Lin S.-P; Li N.-C; Hsieh W.-S; Tung Y.-C; Niu D.-M; Hsu W.-M; Chen L.-Y; Fang M.-Y; Tu M.-P; Kuo P.-W; Lin C.-Y; Su Y.-N; Ho H.-N.
臺大學術典藏 2020-02-12T04:05:56Z A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity Ho H.-N.;Su Y.-N;Niu D.-M;Hsieh W.S;Chen L.-Y;Hung C.-C;Chen P.-C;Chuang E.Y;Lai L.-C;Tsai M.-H;CHIEN-NAN LEE;Lin Y.-C;Hsieh S.-C;Lin S.-Y; Lin S.-Y; Hsieh S.-C; Lin Y.-C; CHIEN-NAN LEE; Tsai M.-H; Lai L.-C; Chuang E.Y; Chen P.-C; Hung C.-C; Chen L.-Y; Hsieh W.S; Niu D.-M; Su Y.-N; Ho H.-N.
臺大學術典藏 2020-02-10T06:49:24Z Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome Shin-Yu Lin;Lee C.-N;Hung C.-C;Tsai W.-Y;Lin S.-P;Li N.-C;Hsieh W.-S;Tung Y.-C;Niu D.-M;Hsu W.-M;Chen L.-Y;Fang M.-Y;Tu M.-P;Kuo P.-W;Lin C.-Y;Su Y.-N;Ho H.-N.; SHIN-YU LIN; Lee C.-N; Hung C.-C; Tsai W.-Y; Lin S.-P; Li N.-C; Hsieh W.-S; Tung Y.-C; Niu D.-M; Hsu W.-M; Chen L.-Y; Fang M.-Y; Tu M.-P; Kuo P.-W; Lin C.-Y; Su Y.-N; Ho H.-N.
臺大學術典藏 2020-02-06T05:22:17Z Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR Su Y.-N.;Lee C.-N.;Lin W.-L.;Chen C.-P.;WEN-FANG CHENG;Lee N.-C.;Niu D.-M.;Lin S.-P.;Lin S.-Y.;Hung C.-C.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; Lee N.-C.; WEN-FANG CHENG; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; Lee N.-C.; WEN-FANG CHENG; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.
臺大學術典藏 2020-02-06T05:22:16Z Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome Chen C.-P.; Chang C.-H.; Lin C.-Y.; Yu C.-C.; Chiu H.-H.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.; Chen M.-R.; Lin S.-P.; Cheng H.-Y.; Su Y.;Niu D.-M.;Ho H.-N.;WEN-FANG CHENG;Chiu H.-H.;Yu C.-C.;Lin C.-Y.;Chang C.-H.;Chen C.-P.;Chen M.-R.;Lin S.-P.;Cheng H.-Y.;Lee C.-N.;Lin S.-Y.;Hung C.-C.; Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin S.-P.; Chen M.-R.; Chen C.-P.; Chang C.-H.; Lin C.-Y.; Yu C.-C.; Chiu H.-H.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.; Hung C.-C.; Lin S.-Y.; Lee C.-N.
臺大學術典藏 2020-02-06T05:22:16Z Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis Su Y.-N.;Niu D.-M.;Ho H.-N.;WEN-FANG CHENG;Lin S.-P.;Yu C.-C.;Chiu H.-H.;Chang C.-H.;Lin C.-Y.;Cheng H.-Y.;Lee C.-N.;Lin S.-Y.;Hung C.-C.; Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin C.-Y.; Chang C.-H.; Chiu H.-H.; Yu C.-C.; Lin S.-P.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin C.-Y.; Chang C.-H.; Chiu H.-H.; Yu C.-C.; Lin S.-P.; WEN-FANG CHENG; Ho H.-N.; Niu D.-M.; Su Y.-N.
臺大學術典藏 2019-09-24T01:42:29Z A whole genome methylation analysis of systemic lupus erythematosus: hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity Lin, S-Y;Hsieh, S-C;Lin, Y-C;Chien-Nan Lee;Tsai, M-H;Liang-Chuan Lai;Chuang, E Y;Chen, P-C;Chien-Ching Hung;Chen, L-Y;Wu-Shiun Hsieh;Niu, D-M;Su, Y-N;Hong-Nerng Ho; Lin, S-Y; Hsieh, S-C; Lin, Y-C; CHIEN-NAN LEE; Tsai, M-H; LIANG-CHUAN LAI; Chuang, E Y; Chen, P-C; CHIEN-CHING HUNG; Chen, L-Y; WU-SHIUN HSIEH; Niu, D-M; Su, Y-N; HONG-NERNG HO
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 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 2018-09-10T09:27:33Z A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity Hsieh, S.-C.; Lin, Y.-C.; Lee, C.-N.; Tsai, M.-H.; Lai, L.-C.; Chuang, E.Y.; Chen, P.-C.; Hung, C.-C.; Chen, L.-Y.; Hsieh, W.S.; Niu, D.-M.; Su, Y.-N.; Ho, H.-N.; Lin, S.-Y.; SHIN-YU LIN; Lin, S-Y; HONG-NERNG HO; Hsieh, S-C; MONG-HSUN TSAI et al.; Lin, Y-C; LIANG-CHUAN LAI; Lee, C-N; Pau-Chung CHEN; Tsai, M-H; CHIEN-NAN LEE; Lai, L-C; Chuang, E. Y.; Chen, P-C; Hung, C-C; Chen, L-Y; Hsieh, W. S.; Niu, D-M; Su, Y-N; Ho, H-N??Z??; ??Q?w
臺大學術典藏 2018 Functional independence of Taiwanese children with Prader–Willi syndrome Lee C.-L.;Lin H.-Y.;Tsai L.-P.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Chien Y.-H.;Ni-Chung Lee;Niu D.-M.;Chao M.-C.;Tsai F.-J.;Chou Y.-Y.;Chuang C.-K.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; Chien Y.-H.; NI-CHUNG LEE; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P.
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.
國立成功大學 2018 Functional independence of Taiwanese children with Prader–Willi syndrome Lee, C.-L.;Lin, H.-Y.;Tsai, L.-P.;Chiu, H.-C.;Tu, R.-Y.;Huang, Y.-H.;Chien, Y.-H.;Lee, N.-C.;Niu, D.-M.;Chao, M.-C.;Tsai, F.-J.;Chou, Y.-Y.;Chuang, Chuang C.-K.;Lin, S.-P.
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 2013 Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P.
臺大學術典藏 2013 erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.

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