tallózása szerző szerint "Simkova E"

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  • Genotype-phenotype associations in WT1 glomerulopathy 
    Lipska BS; Ranchin B; Iatropoulos P; Gellermann J; Melk A; Ozaltin F; Caridi G; Seeman T; Tory, Kálmán; Jankauskiene A; Zurowska A; Szczepanska M; Wasilewska A; Harambat J; Trautmann A; Peco-Antic A; Borzecka H; Moczulska A; Saeed B; Bogdanovic R; Kalyoncu M; Simkova E; Erdogan O; Vrljicak K; Teixeira A; Azocar M; Schaefer F; PodoNet Consortium (2014)
    WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant ...
  • The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon 
    Azukaitis K; Simkova E; Majid MA; Galiano M; Benz K; Amann K; Bockmeyer C; Gajjar R; Meyers KE; Cheong HI; Lange-Sperandio B; Jungraithmayr T; Fremeaux-Bacchi V; Bergmann C; Bereczki, Csaba; Miklaszewska M; Csuka, Dorottya; Prohászka, Zoltán; Gipson P; Sampson MG; Lemaire M; Schaefer F (2017)
    The recent discovery of mutations in the gene encoding diacylglycerol kinase epsilon (DGKE) identified a novel pathophysiologic mechanism leading to HUS and/or MPGN. We report ten new patients from eight unrelated kindreds ...