| 臺大學術典藏 |
2022-03-31T02:39:25Z |
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.; PAU-CHUNG CHEN; Hung C.-C.; Chen L.-Y.; Hsieh W.S.; Niu D.-M.; Su Y.-N.; Ho H.-N. |
| 臺大學術典藏 |
2022-02-15T03:21:50Z |
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
|
Hwang H.W.; JIEN-JIUN CHEN; Lin Y.J.; Shieh R.C.; Lee M.T.; Hung S.I.; Wu J.Y.; Chen Y.T.; Niu D.M.; Hwang B.T. |
| 臺大學術典藏 |
2021-09-09T07:52:51Z |
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.; CHIH-CHIEH YU; Lin S.-P.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y.-N. |
| 臺大學術典藏 |
2021-09-09T07:52:50Z |
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.; CHIH-CHIEH YU; Chiu H.-H.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y. |
| 臺大學術典藏 |
2021-06-09T08:12:18Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.;Lee C.-L.;Chang C.-Y.;Chiu P.C.;Chien Y.-H.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chao M.-C.;Chang T.-M.;Tsai W.-H.;Wang T.-J.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2021-02-04T06:04:55Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
|
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.; 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 |
2021-01-15T02:46:26Z |
A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity
|
Lin S.-Y.; SONG-CHOU HSIEH; 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. |
| 臺大學術典藏 |
2021-01-08T06:17:24Z |
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.;Yi-Ching Tung;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.; Lin S.-Y.; Lee C.-N.; Hung C.-C.; Tsai W.-Y.; Lin S.-P.; Li N.-C.; Hsieh W.-S.; YI-CHING TUNG; 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. |
| 國立成功大學 |
2021 |
Epigenotype, genotype, and phenotype analysis of taiwanese patients with silver–russell syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.-C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Tsai, M.-C.;Chao, M.-C.;Tsai, L.-P.;Yang, C.-F.;Su, P.-H.;Pan, Y.-W.;Lee, C.-H.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 國立成功大學 |
2021 |
Quantitative dna methylation analysis and epigenotype‐phenotype correlations in taiwanese patients with beckwith‐wiedemann syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Yang, C.-F.;Tsai, M.-C.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 臺大學術典藏 |
2020-12-28T10:02:48Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
|
CHIH-CHIEH YU; Chiu H.-H.; Lin C.-Y.; Chang C.-H.; Cheng H.-Y.; Lee C.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y.-N. |
| 臺大學術典藏 |
2020-12-28T10:02:47Z |
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.; CHIH-CHIEH YU; Chiu H.-H.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y. |
| 臺大學術典藏 |
2020-12-24T06:17:00Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:17:00Z |
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
|
Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. |
| 臺大學術典藏 |
2020-12-24T06:16:38Z |
Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
|
Chiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN; Hsiao K.-J.; Liu T.-T. |
| 臺大學術典藏 |
2020-12-24T06:16:34Z |
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
|
Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H. |
| 臺大學術典藏 |
2020-12-24T06:16:27Z |
Functional independence of Taiwanese children with Prader–Willi syndrome
|
Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:51Z |
Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004
|
Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
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.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;Lin S.-P.; 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.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
|
Niu D.-M.;Chien Y.-H.;Chiang C.-C.;Ho H.-C.;Wuh-Liang Hwu;Kao S.-M.;Chiang S.-H.;Kao C.-H.;Liu T.-T.;Chiang H.;Hsiao K.-J.; Niu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:29Z |
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.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:25Z |
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
|
Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
|
Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P. |
