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Showing items 26-50 of 75 (3 Page(s) Totally)
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Institution	Date	Title	Author
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.

Showing items 26-50 of 75 (3 Page(s) Totally)
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