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机构 日期 题名 作者
臺大學術典藏 2022-04-28T12:31:58Z Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia Lee M.-J.; KUO-LIONG CHIEN; Chen M.-F.; Stephenson D.A.; Su T.-C.
臺大學術典藏 2021-01-27T01:38:18Z Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; CHIA-LI YU
臺大學術典藏 2020-12-16T02:26:06Z Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. Lee M.J.;Su Y.N.;You H.L.;Chiou S.C.;Lin L.C.;Yang C.C.;Lee W.C.;Wuh-Liang Hwu;Hsieh F.J.;Stephenson D.A.;Yu C.L.; Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏 2020-11-03T11:32:32Z Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M.; Davis M.B.; An S.-F.; Sweeney M.G.; Groves M.J.; Stephenson D.A.; MING-JEN LEE
臺大學術典藏 2020-11-03T11:32:30Z Recent developments in neurofibromatosis type 1 Stephenson D.A.; MING-JEN LEE
臺大學術典藏 2020-09-28T02:47:41Z Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia Chen M.-F.; Stephenson D.A.; TA-CHEN SU; Chien K.-L.; Lee M.-J.
臺大學術典藏 2020-03-03T02:33:36Z Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene MING-JEN LEE; Stephenson D.A.; Groves M.J.; Sweeney M.G.; Davis M.B.; An S.-F.; Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M.
臺大學術典藏 2020-03-03T02:33:35Z Characterization of a familial case with primary erythromelalgia from Taiwan MING-JEN LEE; Yu H.-S.; Hsieh S.-T.; Stephenson D.A.; Lu C.-J.; Yang C.-C.
臺大學術典藏 2020-03-03T02:33:35Z Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏 2020-03-03T02:33:34Z Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum MING-JEN LEE; Cheng T.-W.; Hua M.-S.; Pan M.-K.; Wang J.; Stephenson D.A.; Yang C.-C.
臺大學術典藏 2020-03-03T02:33:34Z Recent developments in neurofibromatosis type 1 MING-JEN LEE; Stephenson D.A.
臺大學術典藏 2020-03-03T02:33:33Z HMBS mutations in chinese patients with acute intermittent porphyria Yang C.-C.; Kuo H.-C.; You H.-L.; Wang J.; Huang C.-C.; Liu C.-Y.; Lan M.-Y.; Stephenson D.A.; MING-JEN LEE
臺大學術典藏 2020-03-03T02:33:29Z Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia MING-JEN LEE; Chien K.-L.; Chen M.-F.; Stephenson D.A.; Su T.-C.
臺大學術典藏 2020-03-02T08:11:23Z Characterization of a familial case with primary erythromelalgia from Taiwan Lee M.-J.;Yu H.-S.;Sung-Tsang Hsieh;Stephenson D.A.;Lu C.-J.;Yang C.-C.; Lee M.-J.; Yu H.-S.; SUNG-TSANG HSIEH; Stephenson D.A.; Lu C.-J.; Yang C.-C.
臺大學術典藏 2018-09-10T06:50:20Z HMBS mutations in chinese patients with acute intermittent porphyria Yang, C.-C.;Kuo, H.-C.;You, H.-L.;Wang, J.;Huang, C.-C.;Liu, C.-Y.;Lan, M.-Y.;Stephenson, D.A.;Lee, M.-J.; MING-JEN LEE; Chih-Chao Yang
臺大學術典藏 2018-09-10T06:50:20Z Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum 李銘仁;鄭婷文;花茂棽;潘明楷;楊智超; Lee, M-J; Cheng, T-W; Hua, M-S; Pan, M-K; Wang, J; Stephenson, D A; Yang, C-C; Lee, M.-J. and Cheng, T.-W. and Hua, M.-S. and Pan, M.-K. and Wang, J. and Stephenson, D.A. and Yang, C.-C.; LEE, MING-JEN;CHENG, TING-WEN;HUA, MAU- SUN;PAN, MING-KAI;YANG, CHIH-CHAO; Lee, M-J; Ming-Kai Pan; MING-JEN LEE; Cheng, T-W; Chih-Chao Yang; Hua, M-S; Pan, M-K; Wang, J; LEE, MING-JEN; Stephenson, D A; Yang, C-C; CHENG, TING-WEN; HUA, MAU- SUN; PAN, MING-KAI; YANG, CHIH-CHAO
臺大學術典藏 2018-09-10T06:40:07Z Characterization of a familial case with primary erythromelalgia from Taiwan Lee, M.-J.;Yu, H.-S.;Hsieh, S.-T.;Stephenson, D.A.;Lu, C.-J.;Yang, C.-C.; SUNG-TSANG HSIEH; MING-JEN LEE; Chih-Chao Yang
國立臺灣大學 2008 Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum Lee, M-J; Cheng, T-W; Hua, M-S; Pan, M-K; Wang, J; Stephenson, D A; Yang, C-C
國立臺灣大學 2008 Gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum Yang, C. C., Lee, M. J., Tzen, K. Y., Cheng, T. W., Hua, M. S., Pan, M. R., Wang, J.; Stephenson, D. A.
臺大學術典藏 2008 Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum Lee M.-J.;Cheng T.-W.;Hua M.-S.;Ming-Kai Pan;Wang J.;Stephenson D.A.;Yang C.-C.; Lee M.-J.; Cheng T.-W.; Hua M.-S.; MING-KAI PAN; Wang J.; Stephenson D.A.; Yang C.-C.

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