| 臺大學術典藏 |
2020-12-09T01:38:17Z |
Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan
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Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee;Li M.-H.; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Li M.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:17Z |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
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Chien Y.-H.;Ni-Chung Lee;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:17Z |
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
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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 |
2020-12-09T01:38:16Z |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
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Ni-Chung Lee;Hwu W.-L.;Muramatsu S.-I.;Falk D.J.;Byrne B.J.;Cheng C.-H.;Shih N.-C.;Chang K.-L.;Tsai L.-K.;Chien Y.-H.; NI-CHUNG LEE; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:16Z |
Williams–Beuren syndrome in diverse populations
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Gill A.D.; Boyle A.P.; Hu T.; Addissie Y.A.; Mok G.T.K.; Tekendo-Ngongang C.; Fieggen K.; Prijoles E.J.; Tanpaiboon P.; Honey E.; Luk H.-M.; Lo I.F.M.; Thong M.-K.; Muthukumarasamy P.; Jones K.L.; Belhassan K.; Ouldim K.; El Bouchikhi I.; Bouguenouch L.; Shukla A.; Girisha K.M.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Mishra R.; Kisling M.S.; Ferreira C.R.; de Herreros M.B.; NI-CHUNG LEE; Jamuar S.S.; Lai A.; Tan E.S.; Ying Lim J.; Wen-Min C.B.; Gupta N.; Lotz-Esquivel S.; Badilla-Porras R.; Hussen D.F.; El Ruby M.O.; Ashaat E.A.; Patil S.J.; Dowsett L.; Eaton A.; Innes A.M.; Shotelersuk V.; Badoe ?.; Wonkam A.; Obregon M.G.; Chung B.H.Y.; Trubnykova M.; La Serna J.; Gallardo Jugo B.E.; Ch?vez Pastor M.; Abarca Barriga H.H.; Megarbane A.; Kozel B.A.; van Haelst M.M.; Stevenson R.E.; Summar M.; Adeyemo A.A.; Morris C.A.; Moretti-Ferreira D.; Linguraru M.G.; Muenke M.; Huckstadt V.; de Souza D.H.; Moresco A.; Porras A.R.; Kruszka P.; Kruszka P.;Porras A.R.;De Souza D.H.;Moresco A.;Huckstadt V.;Gill A.D.;Boyle A.P.;Hu T.;Addissie Y.A.;Mok G.T.K.;Tekendo-Ngongang C.;Fieggen K.;Prijoles E.J.;Tanpaiboon P.;Honey E.;Luk H.-M.;Lo I.F.M.;Thong M.-K.;Muthukumarasamy P.;Jones K.L.;Belhassan K.;Ouldim K.;El Bouchikhi I.;Bouguenouch L.;Shukla A.;Girisha K.M.;Sirisena N.D.;Dissanayake V.H.W.;Paththinige C.S.;Mishra R.;Kisling M.S.;Ferreira C.R.;De Herreros M.B.;Ni-Chung Lee;Jamuar S.S.;Lai A.;Tan E.S.;Ying Lim J.;Wen-Min C.B.;Gupta N.;Lotz-Esquivel S.;Badilla-Porras R.;Hussen D.F.;El Ruby M.O.;Ashaat E.A.;Patil S.J.;Dowsett L.;Eaton A.;Innes A.M.;Shotelersuk V.;Badoe ?.;Wonkam A.;Obregon M.G.;Chung B.H.Y.;Trubnykova M.;La Serna J.;Gallardo Jugo B.E.;Ch?Vez Pastor M.;Abarca Barriga H.H.;Megarbane A.;Kozel B.A.;Van Haelst M.M.;Stevenson R.E.;Summar M.;Adeyemo A.A.;Morris C.A.;Moretti-Ferreira D.;Linguraru M.G.;Muenke M. |
| 臺大學術典藏 |
2020-12-09T01:38:15Z |
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?
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Chien Y.-H.;Ni-Chung Lee;Hwu W.-L.;Fang J.-Y.; Chien Y.-H.; NI-CHUNG LEE; Hwu W.-L.; Fang J.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:15Z |
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
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Mak C.C.;Leung G.K.;Mok G.T.;Yeung K.S.;Yang W.;Fung C.-W.;Chan S.H.;Lee S.-L.;Ni-Chung Lee;Pfundt R.;Lau Y.-L.;Chung B.H.; Mak C.C.; Leung G.K.; Mok G.T.; Yeung K.S.; Yang W.; Fung C.-W.; Chan S.H.; Lee S.-L.; NI-CHUNG LEE; Pfundt R.; Lau Y.-L.; Chung B.H. |
| 臺大學術典藏 |
2020-12-09T01:38:15Z |
SHOX deficiency in short Taiwanese children: A single-center experience
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Tung Y.-C.;Ni-Chung Lee;Hwu W.-L.;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; NI-CHUNG LEE; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:14Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
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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 |
2020-12-09T01:38:14Z |
Biparental inheritance of mitochondrial DNA in humans
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Luo S.;Valencia C.A.;Zhang J.;Ni-Chung Lee;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
