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Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
Jähn, Johanna A; von Spiczak, Sarah; Muhle, Hiltrud; Obermeier, Tanja; Franke, Andre; Mefford, Heather C; Stephani, Ulrich; Helbig, Ingo.
Afiliación
  • Jähn JA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address: j.jaehn@pedneuro.uni-kiel.de.
  • von Spiczak S; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany; Northern German Epilepsy Center for Children and Adolescents, Schwentinental-Raisdorf, Germany. Electronic address: s.vonspiczak@pedneuro.uni-kiel.de.
  • Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address: Hiltrud.Muhle@uk-sh.de.
  • Obermeier T; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address: tanober@web.de.
  • Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, Germany. Electronic address: a.franke@mucosa.de.
  • Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA. Electronic address: hmefford@u.washington.edu.
  • Stephani U; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany; Northern German Epilepsy Center for Children and Adolescents, Schwentinental-Raisdorf, Germany.
  • Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address: stephani@pedneuro.uni-kiel.de.
Epilepsy Res ; 108(1): 109-16, 2014 Jan.
Article en En | MEDLINE | ID: mdl-24246141
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Convulsiones / Cromosomas Humanos Par 16 / Epilepsia Generalizada / Trastornos de los Cromosomas / Heterocigoto / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Epilepsy Res Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Convulsiones / Cromosomas Humanos Par 16 / Epilepsia Generalizada / Trastornos de los Cromosomas / Heterocigoto / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Epilepsy Res Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2014 Tipo del documento: Article