Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel

Autor: Sedlackova, Lucie, Sterbova, Katalin, Vlckova, Marketa, Seeman, Pavel, Zarubova, Jana, Marusic, Petr, Krsek, Pavel, Krijtova, Hana, Musilova, Alena, Lassuthova, Petra
Zdroj: In European Journal of Paediatric Neurology January 2024 48:17-29
Databáze: ScienceDirect