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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
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 2020-12-16T02:25:51Z Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏 2020-12-16T02:25:34Z 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.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:24Z Incidence of severe combined immunodeficiency through newborn screening in a Chinese population Chang K.-L.; Chiang S.-C.; Chien Y.-H.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-09T01:38:44Z Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y.
臺大學術典藏 2020-12-09T01:38:30Z 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.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏 2020-09-22T09:06:06Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child STEVEN SHINN-FORNG PENG; Weng W.-C.; Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
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.
臺大學術典藏 2018-09-10T09:23:12Z Atmospheric-pressure microplasma in dielectrophoresis-driven bubbles for optical emission spectroscopy SHIH-KANG FAN;Cheng, Y.-T.;Ko, F.-H.;Hsu, C.-C.;Tsai, L.-P.;Shen, Y.-T.;Fan, S.-K.;SHIH-KANG FAN; Fan, S.-K.; Shen, Y.-T.; Tsai, L.-P.; Hsu, C.-C.; Ko, F.-H.; Cheng, Y.-T.; SHIH-KANG FAN
臺大學術典藏 2018-09-10T06:06:32Z Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. Tsai, L.P.;Sue, W.C.;Hwu, W.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN
臺大學術典藏 2018 Functional independence of Taiwanese children with Prader–Willi syndrome Lee C.-L.;Lin H.-Y.;Tsai L.-P.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Chien Y.-H.;Ni-Chung Lee;Niu D.-M.;Chao M.-C.;Tsai F.-J.;Chou Y.-Y.;Chuang C.-K.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; Chien Y.-H.; NI-CHUNG LEE; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P.
國立成功大學 2018 Functional independence of Taiwanese children with Prader–Willi syndrome Lee, C.-L.;Lin, H.-Y.;Tsai, L.-P.;Chiu, H.-C.;Tu, R.-Y.;Huang, Y.-H.;Chien, Y.-H.;Lee, N.-C.;Niu, D.-M.;Chao, M.-C.;Tsai, F.-J.;Chou, Y.-Y.;Chuang, Chuang C.-K.;Lin, S.-P.
臺大學術典藏 2012 A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Lee N.-C.; Hwu W.-L.; Tsai I.-J.; Lee W.-T.; Huang P.-H.; Wu E.-T.; Weng W.-C.; Peng S.-F.; Chien Y.-H.; Wu J.-F.; Tsai L.-P.; Liu H.-M.
臺大學術典藏 2012 A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2012 A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Huang P.-H.; Wu E.-T.; Peng S.-F.; WEN-CHIN WENG; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 1996 Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. Tsai L.P.;Sue W.C.;Wuh-Liang Hwu;Lin K.H.;Wang T.R.; Tsai L.P.; Sue W.C.; WUH-LIANG HWU; Lin K.H.; Wang T.R.
國立臺灣大學 1995 Glucose-6-phosphate Gene G327 is a Common Mutation in Chinese Patients with Glycogen Storage Disease Type I 胡務亮; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.; Hwu, Wuh-Liang; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.

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