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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Hully, Marie; Lo Barco, Tommaso; Kaminska, Anna; Barcia, Giulia; Cances, Claude; Mignot, Cyril; Desguerre, Isabelle; Garcelon, Nicolas; Kabashi, Edor; Nabbout, Rima.
Afiliación
  • Hully M; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades hospital, Universite de Paris, Paris, France.
  • Lo Barco T; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades hospital, Universite de Paris, Paris, France.
  • Kaminska A; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades hospital, Universite de Paris, Paris, France.
  • Barcia G; Department of clinical neurophysiology, Necker Enfants Malades hospital, APHP, Paris, France.
  • Cances C; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades hospital, Universite de Paris, Paris, France.
  • Mignot C; Department of Genetics, Necker Enfants Malades hospital, APHP, Paris, France.
  • Desguerre I; Competence Centre for Rare Epilepsies, Toulouse University Hospital, Toulouse, France.
  • Garcelon N; Department of Genetics, Groupe Hospitalier Pitié Salpetriere-Trousseau, APHP, Sorbonne University, Paris, France.
  • Kabashi E; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades hospital, Universite de Paris, Paris, France.
  • Nabbout R; INSERM, Imagine Institute, UMR 1163, Paris Descartes University, Paris, France.
Genet Med ; 23(5): 968-971, 2021 05.
Article en En | MEDLINE | ID: mdl-33500571
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Minería de Datos / Data Warehousing Tipo de estudio: Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Minería de Datos / Data Warehousing Tipo de estudio: Prognostic_studies Límite: Child / Humans / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia