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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 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.

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