Search Results - Katalin Štěrbová

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    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated pheno... by Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

    Published 2017
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    Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic by Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová

    Published 2023
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