| 臺大學術典藏 |
2020-12-18T02:21:38Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
Chiang S.-C.; Chien Y.-H.; Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Wang-Tso Lee;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE; Jong Y.-J.; Ko T.-M.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-16T02:26:08Z |
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
|
Tzeng C.-C.;Tsai L.-P.;Wuh-Liang Hwu;Lin S.-J.;Chao M.-C.;Jong Y.-J.;Chu S.-Y.;Chao W.-C.;Lu C.-L.; Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
Rapid progressive course of later-onset Pompe disease in Chinese patients
|
Jong Y.-J.; WUH-LIANG HWU; Chen S.-S.; Kuo Y.-T.; Lin S.-P.; Chiang S.-C.; Lee N.-C.; Chien Y.-H.; Yang C.-C.; Yang C.-C.;Chien Y.-H.;Lee N.-C.;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Wuh-Liang Hwu |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:16Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Wuh-Liang Hwu;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; WUH-LIANG HWU; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:03Z |
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
|
Sansone V.A.; Ben-Omran T.; Topaloglu H.; Butterfield R.J.; De Vivo D.C.;Bertini E.;Swoboda K.J.;Wuh-Liang Hwu;Crawford T.O.;Finkel R.S.;Kirschner J.;Kuntz N.L.;Parsons J.A.;Ryan M.M.;Butterfield R.J.;Topaloglu H.;Ben-Omran T.;Sansone V.A.;Jong Y.-J.;Shu F.;Staropoli J.F.;Kerr D.;Sandrock A.W.;Stebbins C.;Petrillo M.;Braley G.;Johnson K.;Foster R.;Gheuens S.;Bhan I.;Reyna S.P.;Fradette S.;Farwell W.;Nurture Study Group; De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group |
| 臺大學術典藏 |
2020-12-09T01:38:33Z |
Rapid progressive course of later-onset Pompe disease in Chinese patients
|
Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:21Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-09T01:38:17Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
|
Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Ni-Chung Lee;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; NI-CHUNG LEE; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:14Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Ni-Chung Lee; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-11-03T12:37:48Z |
An integrative transcriptomic analysis for identifying novel target genes corresponding to severity spectrum in spinal muscular atrophy
|
Chuang C.-Y.; Chou W.-C.; Lin H.-C.; Jong Y.-J.; LI-KAI TSAI; Yang C.-W.; Chen C.-L. |
| 臺大學術典藏 |
2020-07-03T06:08:15Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Su Y.-N.; Yang Y.-L.; Chen H.-L.; Chen M.; Lin W.-H.; MU-ZON WU; Kuo K.-T.; Shih J.-C.; Hwu W.-L.; Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Mu-Zon Wu;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C. |
| 臺大學術典藏 |
2020-03-23T07:52:30Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Tsai W.-Y.; Lee N.-C.; Liu S.-Y.; Jong Y.-J.; Su Y.-N.; Chen M.; Yang Y.-L.; Chen H.-L.; Wu M.-Z.; Kuo K.-T.; WEN-HSI LIN; Shih J.-C.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.;Tsai W.-Y.;Liu S.-Y.;Jong Y.-J.;Su Y.-N.;Chen M.;Chen H.-L.;Yang Y.-L.;Kuo K.-T.;Wu M.-Z.;WEN-HSI LIN;Shih J.-C.;Hwu W.-L.;Tung Y.-C.;Lee C.-T.; Lee C.-T. |
| 臺大學術典藏 |
2020-03-10T03:29:49Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Huey-Ling Chen;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; HUEY-LING CHEN; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-07T06:42:04Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuan-Ting Kuo;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-05T07:52:26Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J. |
| 臺大學術典藏 |
2020-03-05T06:05:36Z |
An integrative transcriptomic analysis for identifying novel target genes corresponding to severity spectrum in spinal muscular atrophy
|
Yang C.-W.; Chen C.-L.; Chou W.-C.; Lin H.-C.; Jong Y.-J.; LI-KAI TSAI; Chuang C.-Y. |
| 臺大學術典藏 |
2020-03-02T08:11:22Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes
|
Hung C.-C.;Chien S.-C.;Lin C.-Y.;Chang C.-H.;Chang Y.-F.;Jong Y.-J.;Sung-Tsang Hsieh;Hsieh W.-S.;Liu M.S.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Chien S.-C.; Lin C.-Y.; Chang C.-H.; Chang Y.-F.; Jong Y.-J.; SUNG-TSANG HSIEH; Hsieh W.-S.; Liu M.S.; Lin W.-L.; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-03-02T08:11:20Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Hung C.-C.;Lee C.-N.;Lin C.-Y.;Cheng W.-F.;Chen C.-A.;Sung-Tsang Hsieh;Yang C.-C.;Jong Y.-J.;Su Y.-N.;Lin W.-L.; Hung C.-C.; Lee C.-N.; Lin C.-Y.; Cheng W.-F.; Chen C.-A.; SUNG-TSANG HSIEH; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L. |
| 臺大學術典藏 |
2020-02-26T09:01:10Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
|
Lee C.-N.; Chen C.-P.; Jong Y.-J.; Chen C.-A.; Cheng W.-F.; Win-Li Lin; Su Y.-N.; Hung C.-C.;Lee C.-N.;Chen C.-P.;Jong Y.-J.;Chen C.-A.;Cheng W.-F.;Win-Li Lin;Su Y.-N.; Hung C.-C. |
| 臺大學術典藏 |
2020-02-26T09:01:03Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes
|
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.;Win-Li Lin;Lee C.-N.;Su Y.-N.; 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.; Win-Li Lin; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-02-26T09:01:00Z |
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.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:01:00Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Hung C.-C.; Lee C.-N.; Lin C.-Y.; Cheng W.-F.; Chen C.-A.; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-14T02:50:13Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
|
Hung C.-C.;Lee C.-N.;Chen C.-P.;Jong Y.-J.;Chen C.-A.;Wen-Fang Cheng;Lin W.-L.;Su Y.-N.; Hung C.-C.; Lee C.-N.; Chen C.-P.; Jong Y.-J.; Chen C.-A.; WEN-FANG CHENG; Lin W.-L.; Su Y.-N. |
| 臺大學術典藏 |
2020-02-14T02:50:05Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Hung C.-C.; Lee C.-N.; Lin C.-Y.; WEN-FANG CHENG; Chen C.-A.; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L. |
| 臺大學術典藏 |
2020-02-13T05:52:20Z |
The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination
|
Chang Y.-F.;Cheng C.-M.;Chang L.-K.;Jong Y.-J.;Yuo C.-Y.; Chang Y.-F.; Cheng C.-M.; Chang L.-K.; Jong Y.-J.; Yuo C.-Y.; LI-KWAN CHANG |
| 臺大學術典藏 |
2020-02-12T04:06:27Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
|
Su Y.-N.;Lin W.-L;Cheng W.-F;Chen C.-A;Jong Y.-J;Chen C.-P;CHIEN-NAN LEE;Hung C.-C; Hung C.-C; CHIEN-NAN LEE; Chen C.-P; Jong Y.-J; Chen C.-A; Cheng W.-F; Lin W.-L; Su Y.-N. |
| 臺大學術典藏 |
2020-02-12T04:06:11Z |
Molecular assay of -�\3.7 and -�\4.2 deletions causing �\-thalassemia by denaturing high-performance liquid chromatography
|
Hsu S.-M.;Su Y.-N;Lin W.-L;Hsieh W.-S;Jong Y.-J;Chen C.-P;CHIEN-NAN LEE;Hung C.-C; Hung C.-C; CHIEN-NAN LEE; Chen C.-P; Jong Y.-J; Hsieh W.-S; Lin W.-L; Su Y.-N; Hsu S.-M. |
| 臺大學術典藏 |
2020-02-12T04:06:10Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and �\-globin genes
|
Su Y.-N.;CHIEN-NAN LEE;Lin W.-L;Liu M.S;Hsieh W.-S;Hsieh S.-T;Jong Y.-J;Chang Y.-F;Chang C.-H;Lin C.-Y;Chien S.-C;Hung C.-C; 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; CHIEN-NAN LEE; Su Y.-N. |
| 臺大學術典藏 |
2020-02-12T04:06:08Z |
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis
|
Lin W.-L.;Su Y.-N;Hsieh W.-S;Chen C.-P;Jong Y.-J;Chang C.-H;CHIEN-NAN LEE;Hung C.-C; Hung C.-C; CHIEN-NAN LEE; Chang C.-H; Jong Y.-J; Chen C.-P; Hsieh W.-S; Su Y.-N; Lin W.-L. |
| 臺大學術典藏 |
2020-02-12T04:06:08Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Lin W.-L.;Su Y.-N;Jong Y.-J;Yang C.-C;Hsieh S.-T;Chen C.-A;Cheng W.-F;Lin C.-Y;CHIEN-NAN LEE;Hung C.-C; Hung C.-C; CHIEN-NAN LEE; Lin C.-Y; Cheng W.-F; Chen C.-A; Hsieh S.-T; Yang C.-C; Jong Y.-J; Su Y.-N; Lin W.-L. |
| 臺大學術典藏 |
2020-02-06T05:22:29Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
|
Jong Y.-J.; Chen C.-P.; Lee C.-N.; Su Y.-N.; Hung C.-C.; WEN-FANG CHENG; Lin W.-L.; Jong Y.-J.; Chen C.-A.; Chen C.-P.; Lee C.-N.; Hung C.-C.; Su Y.-N.;Lin W.-L.;WEN-FANG CHENG;Chen C.-A.;Jong Y.-J.;Chen C.-P.;Lee C.-N.;Hung C.-C.; Chen C.-A.; WEN-FANG CHENG; Lin W.-L.; Su Y.-N. |
| 臺大學術典藏 |
2020-02-06T05:22:22Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Lin W.-L.;Su Y.-N.;Jong Y.-J.;Yang C.-C.;Hsieh S.-T.;Chen C.-A.;WEN-FANG CHENG;Lin C.-Y.;Lee C.-N.;Hung C.-C.; Hung C.-C.; Lee C.-N.; Lin C.-Y.; WEN-FANG CHENG; Chen C.-A.; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L.; Hung C.-C.; Lee C.-N.; Lin C.-Y.; WEN-FANG CHENG; Chen C.-A.; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L. |
| 臺大學術典藏 |
2020-02-03T08:15:21Z |
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the duchenne muscular dystrophy gene in Taiwanese subjects
|
Hsiao-Lin Hwa;Chang Y.-Y.;Chen C.-H.;Kao Y.-S.;Jong Y.-J.;Chao M.-C.;Ko T.-M.; HSIAO-LIN HWA; Chang Y.-Y.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; Ko T.-M. |
| 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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Er T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN; Chang J.-G.; Hwang J.-K.; Jong Y.-J. |
| 臺大學術典藏 |
2008 |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Lee C.-N.; Lin C.-Y.; Cheng W.-F.; CHI-AN CHEN; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L.; Hung C.-C. |
| 臺大學術典藏 |
2007 |
Molecular assay of -α3.7 and -α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography
|
Hung C.-C.;Lee C.-N.;Chen C.-P.;Jong Y.-J.;Hsieh W.-S.;Win-Li Lin;Su Y.-N.;Hsu S.-M.; Hung C.-C.; Lee C.-N.; Chen C.-P.; Jong Y.-J.; Hsieh W.-S.; Win-Li Lin; Su Y.-N.; Hsu S.-M. |
| 國立臺灣大學 |
2004 |
Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary
|
Chow, S-N; Lin, M-C; Shen, J; Wang, S; Jong, Y-J; Chien, C-H |
| 國立彰化師範大學 |
2000-01 |
A Mouse Model for Spinal Muscular Atrophy
|
Hsieh-Li, H. M. ; Chang, J. G. ; Jong, Y. J. ; Wu, M. H. ; Wang, Nancy M. ; Tsai, C. H. ; Li, H. |
| 國立臺灣大學 |
1994 |
Guillain-Barre Syndrome in Children:A Cooperative Study in Taiwan
|
洪焜隆; Wang, H. S.; Liou, W. Y.; Mak, S. C.; Chi, C. S.; Shen, E. Y.; Lin, M. I.; 王本榮; Shen, Y. Z.; Chang, K. P.; Ko, F. J.; Jong, Y. J.; Chiang, C. H.; Chen, Y. J.; 何美美; 洪焜隆; Wang, H. S.; Liou, W. Y.; Mak, S. C.; Chi, C. S.; Shen, E. Y.; Lin, M. I.; 王本榮; Shen, Y. Z.; Chang, K. P.; Ko, F. J.; Jong, Y. J.; Chiang, C. H.; Chen, Y. J.; Ho, Mei-Mei |
