Výpis publikací

2017

1. The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant

   WAYHELOVÁ, Markéta, Jan OPPELT, Denisa VESELÁ, Jan SMETANA, Filip PARDY, Hana FILKOVÁ, Dita MATUCHOVÁ, Jana ŠOUKALOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant. In The European Human Genetics Conference ESHG 2017. 2017. ISSN 1018-4813.

   Podrobněji: https://is.muni.cz/publication/1407163/cs