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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina, Erika; Ciccone, Roberto; Brustia, Francesca; Bayindir, Baran; Limongelli, Ivan; Vetro, Annalisa; Iascone, Maria; Pezzoli, Laura; Bellazzi, Riccardo; Perotti, Gianfranco; De Giorgis, Valentina; Lunghi, Simona; Coppola, Giangennaro; Orcesi, Simona; Merli, Pietro; Savasta, Salvatore; Veggiotti, Pierangelo; Zuffardi, Orsetta.
Afiliación
  • Della Mina E; Department Molecular Medicine, University of Pavia, Pavia, Italy.
  • Ciccone R; Department Molecular Medicine, University of Pavia, Pavia, Italy.
  • Brustia F; National Neurological Institute C. Mondino, Pavia, Italy.
  • Bayindir B; Department Molecular Medicine, University of Pavia, Pavia, Italy.
  • Limongelli I; National Neurological Institute C. Mondino, Pavia, Italy.
  • Vetro A; Department Molecular Medicine, University of Pavia, Pavia, Italy.
  • Iascone M; USSD Medical Genetics Laboratory of Ospedali Riuniti, Bergamo, Italy.
  • Pezzoli L; USSD Medical Genetics Laboratory of Ospedali Riuniti, Bergamo, Italy.
  • Bellazzi R; 1] Department of Industrial and Information Engineering, University of Pavia, Pavia, Italy [2] IRCCS Foundation Salvatore Maugeri, Pavia, Italy.
  • Perotti G; IRCCS Foundation Policlinico San Matteo, Pavia, Italy.
  • De Giorgis V; National Neurological Institute C. Mondino, Pavia, Italy.
  • Lunghi S; National Neurological Institute C. Mondino, Pavia, Italy.
  • Coppola G; Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Salerno, Italy.
  • Orcesi S; National Neurological Institute C. Mondino, Pavia, Italy.
  • Merli P; IRCCS Foundation Policlinico San Matteo, Pavia, Italy.
  • Savasta S; IRCCS Foundation Policlinico San Matteo, Pavia, Italy.
  • Veggiotti P; National Neurological Institute C. Mondino, Pavia, Italy.
  • Zuffardi O; 1] Department Molecular Medicine, University of Pavia, Pavia, Italy [2] National Neurological Institute C. Mondino, Pavia, Italy.
Eur J Hum Genet ; 23(3): 354-62, 2015 Mar.
Article en En | MEDLINE | ID: mdl-24848745

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Epilepsia / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Epilepsia / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia