| 臺大學術典藏 |
2020-02-03T08:15:20Z |
Small mutations of the DMD gene in Taiwanese families
|
HSIAO-LIN HWA; Chang Y.-Y.; Huang C.-H.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; Ko T.-M. |
| 臺大學術典藏 |
2020-01-22T07:50:49Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
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Hung C.-C.;Lee C.-N.;Chen C.-P.;Jong Y.-J.;Chi-An Chen;Cheng W.-F.;Lin W.-L.;Su Y.-N.; Hung C.-C.; Lee C.-N.; Chen C.-P.; Jong Y.-J.; CHI-AN CHEN; Cheng W.-F.; Lin W.-L.; Su Y.-N. |
| 國立成功大學 |
2020 |
Segmental isodisomy in Prader–Willi syndrome patients: The experience of a single diagnostic center
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Pan, Y.-W.;Chang, Chang C.-W.;Jong, Y.-J.;Chou, Y.-Y.;Kuo, P.-L. |
| 臺大學術典藏 |
2018-09-10T07:13:27Z |
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis
|
Hung, C.-C.;Lee, C.-N.;Chang, C.-H.;Jong, Y.-J.;Chen, C.-P.;Hsieh, W.-S.;Su, Y.-N.;Lin, W.-L.; WU-SHIUN HSIEH; CHIEN-NAN LEE |
| 臺大學術典藏 |
2018-09-10T06:41:37Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes
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Hung, C.-C.;Chien, S.-C.;Lin, C.-Y.;Chang, C.-H.;Chang, Y.-F.;Jong, Y.-J.;Hsieh, S.-T.;Hsieh, W.-S.;Liu, M.S.;Lin, W.-L.;Lee, C.-N.;Su, Y.-N.; WU-SHIUN HSIEH; SUNG-TSANG HSIEH; CHIEN-NAN LEE |
| 臺大學術典藏 |
2018-09-10T06:41:36Z |
Molecular assay of -α3.7and -α4.2deletions causing α-thalassemia by denaturing high-performance liquid chromatography
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Hung, C.-C.;Lee, C.-N.;Chen, C.-P.;Jong, Y.-J.;Hsieh, W.-S.;Lin, W.-L.;Su, Y.-N.;Hsu, S.-M.; WU-SHIUN HSIEH; CHIEN-NAN LEE |
| 臺大學術典藏 |
2016 |
Increased risks of tic disorders in children with epilepsy: A nation-wide population-based case-control study in Taiwan
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Weng W.-C.; Huang H.-L.; Wong L.C.; Jong Y.-J.; Yin Y.-J.; Chen H.-A.; WANG-TSO LEE; Ho S.-Y. |
| 國立交通大學 |
2014-12-08T15:32:21Z |
Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T > C mt-tRNA(Glu) mutation
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Chen, T. -H.; Tu, Y. -F.; Goto, Y. -I.; Jong, Y. -J. |
| 臺大學術典藏 |
2014 |
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease
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Er T.-K.; Chen C.-C.; YIN-HSIU CHIEN; Liang W.-C.; Kan T.-M.; Jong Y.-J. |
| 臺大學術典藏 |
2011 |
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif
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Er T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN; Chang J.-G.; Hwang J.-K.; Jong Y.-J. |