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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus, Anne; Olson, Heather E; Smith, Lacey; Keith, Louisa G; El Achkar, Christelle; Taylor, Alan; Mahida, Sonal; Park, Meredith; Kelly, McKenna; Shain, Catherine; Rockowitz, Shira; Rosen Sheidley, Beth; Poduri, Annapurna.
Afiliación
  • Rochtus A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Olson HE; Department of Pediatrics, University of Leuven, Leuven, Belgium.
  • Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Keith LG; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
  • El Achkar C; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Taylor A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Park M; Department of Neurology, Harvard Medical School, Boston, Massachusetts.
  • Kelly M; Department of Genomics, Al Jalila Children's Specialty Hospital, Dubai.
  • Shain C; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Rockowitz S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Rosen Sheidley B; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Epilepsia ; 61(2): 249-258, 2020 02.
Article en En | MEDLINE | ID: mdl-31957018
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Exoma Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Exoma Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Epilepsia Año: 2020 Tipo del documento: Article