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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano, Filomena; Dell'Aquila, Milena; Terracciano, Chiara; Franzese, Giuseppina; Gentile, Maria Teresa; Piluso, Giulio; Santoro, Claudia; Colavito, Davide; Patanè, Anna; De Blasiis, Paolo; Sampaolo, Simone; Paladino, Simona; Melone, Mariarosa Anna Beatrice.
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  • Napolitano F; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Dell'Aquila M; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Terracciano C; Neurology Unit, Azienda Unità Sanitaria Locale di Piacenza, 29121 Piacenza, Italy.
  • Franzese G; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Gentile MT; Laboratory of Cellular and Molecular Neuropathology, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Piluso G; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 7, 80138 Naples, Italy.
  • Santoro C; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138 Naples, Italy.
  • Colavito D; Department of Mental and Physical Health and Preventive Medicine, Clinic of Child and Adolescent Neuropsychiatry, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Patanè A; R&I Genetics SRL, 35127 Padua, Italy.
  • De Blasiis P; R&I Genetics SRL, 35127 Padua, Italy.
  • Sampaolo S; Department of Mental and Physical Health and Preventive Medicine, Section of Human Anatomy, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Paladino S; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Melone MAB; Department of Molecular Medicine and Medical Biotechnology, InterUniversity Center for Research in Neurosciences, University of Naples "Federico II", 80131 Naples, Italy.
Genes (Basel) ; 13(7)2022 06 23.
Article en En | MEDLINE | ID: mdl-35885913
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neurofibromatosis 1 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neurofibromatosis 1 Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza