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机构 日期 题名 作者
國立成功大學 2023 Atrichia with papular lesions in a 1-year-old girl resulting from a new homozygous nonsense pathogenic variant in the hairless gene Segovia, J.-C.;Lin, Y.-C.;Aala, W.;Dolendo, M.C.J.;McGrath, J.A.;Hsu, C.-K.;Guevara, B.E.K.
國立成功大學 2023 Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation Endzhievskaya, S.;Hsu, C.-K.;Yang, H.-S.;Huang, Huang H.-Y.;Lin, Y.-C.;Hong, Y.-K.;Lee, J.Y.W.;Onoufriadis, A.;Takeichi, Takeichi T.;Yu-Yun, Lee J.;Shaw, T.J.;McGrath, J.A.;Parsons, M.
國立成功大學 2022 Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris Onoufriadis, A.;Niazi, U.;Dimitrakopoulou, K.;Reich, J.;Ainali, C.;Papanikolaou, M.;Kesidou, E.;Hsu, C.-K.;Saqi, M.;McGrath, J.A.;Reich, K.
國立成功大學 2022 Plasma metabolomic and lipidomic profiling highlights metabolic changes in keloid-prone individuals Onoufriadis, A.;Hsu, C.-K.;Hong, Y.-K.;Lin, Y.-C.;McGrath, J.A.
臺大學術典藏 2021-07-06T02:04:17Z Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia PEI-LUNG CHEN; Avramopoulos D.; Lasseter V.K.; McGrath J.A.; Fallin M.D.; Liang K.-Y.; Nestadt G.; Feng N.; Steel G.; Cutting A.S.; Wolyniec P.; Pulver A.E.; Valle D.
臺大學術典藏 2021-07-06T02:04:17Z Familiality of novel factorial dimensions of schizophrenia McGrath J.A.; Avramopoulos D.; Lasseter V.K.; Wolyniec P.S.; Fallin M.D.; Liang K.-Y.; Nestadt G.; Thornquist M.H.; Luke J.R.; PEI-LUNG CHEN; Valle D.; Pulver A.E.
臺大學術典藏 2021-07-06T02:04:10Z Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling Liu Y.; Pham X.; Zhang L.; PEI-LUNG CHEN; Burzynski G.; McGaughey D.M.; He S.; McGrath J.A.; Wolyniec P.; Fallin M.D.; Pierce M.S.; McCallion A.S.; Pulver A.E.; Avramopoulos D.; Valle D.
國立成功大學 2021 Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges Natsuga, K.;Shinkuma, Shinkuma S.;Hsu, C.-K.;Fujita, Y.;Ishiko, A.;Tamai, K.;McGrath, J.A.
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 Plectin missense mutation p.Leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex Tu, W.-T.;Chen, P.-C.;Hou, P.-C.;Huang, Huang H.-Y.;Wang, J.-Y.;Chao, S.-C.;Lee, J.Y.-Y.;McGrath, J.A.;Natsuga, K.;Hsu, C.-K.
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 2019 Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome Sukakul, T.;Yang, H.-S.;Onoufriadis, A.;Hsu, C.-K.;McGrath, J.A.
臺大學術典藏 2018-09-10T07:19:24Z Familiality of novel factorial dimensions of schizophrenia Mcgrath, J.A.;Avramopoulos, D.;Lasseter, V.K.;Wolyniec, P.S.;Fallin, M.D.;Liang, K.-Y.;Nestadt, G.;Thornquist, M.H.;Luke, J.R.;Chen, P.-L.;Valle, D.;Pulver, A.E.; PEI-LUNG CHEN
國立成功大學 2018 Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14 Lwin, S.M.;Hsu, C.-K.;Liu, Liu L.;Huang, Huang H.-Y.;Levell, N.J.;McGrath, J.A.
國立成功大學 2018 Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals Onoufriadis, A.;Hsu, C.-K.;Ainali, C.;Ung, C.Y.;Rashidghamat, E.;Yang, H.-S.;Huang, Huang H.-Y.;Niazi, U.;Tziotzios, C.;Yang, J.-C.;Nuamah, R.;Tang, M.-J.;Saxena, A.;de, Rinaldis E.;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 2016-11 Incontinentia pigmenti in a father and daughter Rashidghamat, E.;Hsu, C. K.;Nanda, A.;Liu, L.;Al-Ajmi, H.;McGrath, J. A.
國立成功大學 2015-12 Ichthyosis prematurity syndrome: from fetus to adulthood Lwin, S. M.; Hsu, C. -K.; McMillan, J. R.; Liu, L.; Lomas, D. E.; Mellerio, J. E.; McGrath, J. A.
國立成功大學 2015-12 Incontinentia pigmenti in a father and daughter Rashidghamat, E.; Hsu, C. K.; Nanda, A.; 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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