Kombinace aCGH a SureSelect (NGS): robustní a citlivá genomická technika pro detekci idiopatických duševních postižení a opožděného vývoje

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

Marketa Wayhelova1,2, Jan Oppelt3,4, Denisa Vesela2, Jan Smetana1,2, Filip Pardy5, Hana Filkova1, Dita Matuchova1, Jana Soukalova1, Renata Gaillyova1, Petr Kuglik1,2

1 University Hospital, Department of Medical Genetics, Brno, Czech Republic, 2Faculty of Science, Department of Experimental Biology, Brno, Czech Republic; 3National Centre for Biomolecular Research, Faculty of Science, Masaryk University, Brno, Czech Republic, 4CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic, 5Core Facility Genomics, CEITEC, Masaryk University, Brno, Czech Republic

Poster z ESHG 2017 ke stažení.

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