臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Showing items 26-35 of 75 (8 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.

Showing items 26-35 of 75 (8 Page(s) Totally)
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View [10|25|50] records per page