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Showing items 1-10 of 512 (52 Page(s) Totally) 1 2 3 4 5 6 7 8 9 10 > >> View [10|25|50] records per page
國立成功大學 |
2023 |
Changing clinical manifestations of Gaucher disease in Taiwan
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Lu, W.-L.;Chien, Y.-H.;Tsai, F.-J.;Hwu, W.-L.;Chou, Y.-Y.;Chu, S.-Y.;Li, M.-J.;Lee, A.-J.;Liao, C.-C.;Wang, C.-H.;Lee, N.-C. |
國立成功大學 |
2023 |
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
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Chen, Chen C.-B.;Hsu, J.S.;Chen, P.-L.;Wu, J.-F.;Li, H.-Y.;Liou, B.-Y.;Chang, M.-H.;Ni, Y.-H.;Hwu, W.-L.;Chien, Y.-H.;Chou, Y.-Y.;Yang, Yang Y.-J.;Lee, N.-C.;Chen, H.-L. |
國立成功大學 |
2023 |
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease
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Li, H.-Y.;Lee, N.-C.;Chiu, Y.-T.;Chang, Y.-W.;Lin, C.-C.;Chou, Chou C.-L.;Chien, Y.-H.;Hwu, W.-L.;Cheng, W.-C. |
臺大學術典藏 |
2022-09-15T05:47:52Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
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Hsieh P.-C.; Chen-Chi Wu; Lee N.-C.; Hsieh J.-H.; Liao Y.-H. |
臺大學術典藏 |
2022-09-15T02:48:40Z |
A case of GNE myopathy mimicking hereditary motor neuropathy
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Huang, Y-N; Chuang, H-J; Hsueh, H-W; HSIN-CHIEH HUANG; Lee, N-C; Chao, C-C; HUANG, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-T |
臺大學術典藏 |
2022-09-15T02:44:08Z |
A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
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Lin I.-T.; Lee N.-C.; Fan S.-P.; Huang C.-J.; Cheng P.; Chen J.-H.; CHIN-HSIEN LIN |
臺大學術典藏 |
2022-09-06T02:56:09Z |
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
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YIN-HSIU CHIEN; Lee N.-C.; Weng W.-C.; Chen L.-C.; Huang Y.-H.; Wu C.-S.; Hwu W.-L. |
臺大學術典藏 |
2022-09-06T02:56:09Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
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Lee N.-C.; YIN-HSIU CHIEN; Wang C.-H.; Wong S.-L.; Peng S.S.-F.; Tsai F.-J.; Hwu W.-L. |
臺大學術典藏 |
2022-09-06T02:56:07Z |
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
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Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN |
臺大學術典藏 |
2022-09-06T02:56:07Z |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
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Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN |
Showing items 1-10 of 512 (52 Page(s) Totally) 1 2 3 4 5 6 7 8 9 10 > >> View [10|25|50] records per page
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