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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Seeman, Pavel; Zarubova, Jana; Marusic, Petr; Krsek, Pavel; Krijtova, Hana; Musilova, Alena; Lassuthova, Petra.
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  • Sedlackova L; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: lucie.sedlackova@lfmotol.cuni.cz.
  • Sterbova K; Department of Paediatric Neurology, Second Faculty of Medicine, Motol Epilepsy Center, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: katalin.sterbova@fnmotol.cz.
  • Vlckova M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: marketa.vlckova@fnmotol.cz.
  • Seeman P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czech Republic. Electronic address: pav
  • Zarubova J; Department of Neurology, Motol Epilepsy Center, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: jana.zarubova161@gmail.com.
  • Marusic P; Department of Neurology, Motol Epilepsy Center, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: petr.marusic@fnmotol.cz.
  • Krsek P; Department of Paediatric Neurology, Second Faculty of Medicine, Motol Epilepsy Center, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: pavel.krsek@fnmotol.cz.
  • Krijtova H; Department of Neurology, Motol Epilepsy Center, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: hana.krijtova@fnmotol.cz.
  • Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: alena.musilova@lfmotol.cuni.cz.
  • Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Full Member of the ERN EpiCARE, Czech Republic. Electronic address: petra.lassuthova@fnmotol.cz.
Eur J Paediatr Neurol ; 48: 17-29, 2024 Jan.
Article en En | MEDLINE | ID: mdl-38008000
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article