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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
國立成功大學 2021 A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis Onoufriadis, A.;Boulouadnine, Boulouadnine B.;Dachy, G.;Higashino, T.;Huang, Huang H.Y.;Hsu, C.K.;Simpson, M.A.;Bork, K.;Demoulin, J.B.;McGrath, J.A.
國立成功大學 2020 Blaschko-linear lichen planus: Clinicopathological and genetic analysis Chuamanochan, M.;Onoufriadis, A.;Farnood, S.;Hsu, C.-K.;Simpson, M.A.;Mahanupab, P.;Tovanabutra, N.;Chiewchanvit, S.;McGrath, J.A.
國立成功大學 2020 Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas Supsrisunjai, C.;Hsu, C.-K.;Michael, Michael M.;Duval, C.;Lee, J.Y.W.;Yang, H.-S.;Huang, Huang H.-Y.;Chaikul, T.;Onoufriadis, A.;Steiner, R.A.;Ari�ns, R.A.S.;Sarig, O.;Sprecher, E.;Eskin-Schwartz, M.;Samlaska, C.;Simpson, M.A.;Calonje, E.;Parsons, M.;McGrath, J.A.
國立成功大學 2019 Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica Onoufriadis, A.;Hsu, C.-K.;Eide, C.R.;Nanda, A.;Orchard, G.E.;Tomita, K.;Sheriff, A.;Scott, W.;Tierney, C.;Lee, J.Y.W.;Gomaa, N.S.;Desomchoke, R.;Lwin, S.M.;Tu, W.-T.;Chen, L.-Y.;Huang, Huang H.-Y.;Chao, S.-C.;Yu-Yun, Lee J.;Bare, Y.;Hayday, T.;Guy, A.L.;Liu, Liu L.;Lees, C.;Hirdler, T.;Lovell, P.;Xia, L.;Dayrit, J.F.;Calonje, E.;Simpson, M.A.;Tolar, J.;Parsons, M.;McGrath, J.A.
國立成功大學 2018 Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility Lee, J.Y.W.;Farag, A.;Tawdy, A.;Liu, Liu L.;Michael, Michael M.;Rashidghamat, E.;Aristodemou, S.;Hsu, C.-K.;Simpson, M.A.;Parsons, M.;McGrath, J.A.
國立成功大學 2015-04 Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ) Takeichi, T.; Hsu, C. -K.; Yang, H. -S.; Chen, H. -Y.; Wong, T. -W.; Tsai, W. -L.; Chao, S. -C.; Lee, J. Y. -Y.; Akiyama, M.; Simpson, M. A.; McGrath, J. A.

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