Resultats de la cerca - Katalin Štěrbová

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... per Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

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

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