20162019

Research output per year

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Research Output

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
  • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    SKABAR ALDO, 2019, In : Nature Communications. 10, 1

    Research output: Contribution to journalArticle

    Diagnostic implications of genetic copy number variation in epilepsy plus

    EuroEPINOMICS RES Consortium, Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

    Research output: Contribution to journalArticle

  • Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23

    Papa, R., Dell'Orso, G., Caorsi, R., Madia, F., Falcini, F. & Picco, P., Jul 10 2019, In : Clin. Exp. Rheumatol.. 37 Suppl 121, 6, p. 163

    Research output: Contribution to journalArticle

    High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome

    Bernardo, P., Del Gaudio, L., Madia, F., Marino, M., Santoro, C., Caccavale, C., Striano, S., Bravaccio, C. & Coppola, A., Apr 18 2019, In : Neurocase. 25, 1-2, p. 62-65 4 p.

    Research output: Contribution to journalArticle