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機構 日期 題名 作者
臺大學術典藏 2020-03-10T03:30:10Z Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system Chang M.-H.; Chang C.-C.; HUEY-LING CHEN; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-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 2020-03-06T08:25:45Z Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. Tsai S.Y.;Yung-Ming Jeng;Hwu W.L.;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; YUNG-MING JENG; Hwu W.L.; Ni Y.H.; Chang M.H.; Wang T.R.
臺大學術典藏 2020-03-06T08:25:31Z Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants Yeh J.-N.; YUNG-MING JENG; Chen H.-L.; Ni Y.-H.; Hwu W.-L.; Chang M.-H.
臺大學術典藏 2020-03-06T08:25:23Z X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; YUNG-MING JENG; Chang M.-H.; Hwu W.-L.
臺大學術典藏 2020-03-06T08:24:53Z Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10 Cheng W.;Huang P.-C.;Chao H.-M.;Yung-Ming Jeng;Hsu H.-C.;Pan H.-W.;Hwu W.-L.;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; YUNG-MING JENG; Hsu H.-C.; Pan H.-W.; Hwu W.-L.; Lee Y.-M.
臺大學術典藏 2020-03-05T08:16:42Z Pompe disease in infants: Improving the prognosis by newborn screening and early treatment Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏 2020-03-05T08:16:42Z Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Pei-Hsin Huang;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏 2020-03-05T08:16:40Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; PEI-HSIN HUANG; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.

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