Found: 3

Select item for more details and to access through your institution.

  • PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

    Published in:
    Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
    By:
    • Montanaro, Federica Alice Maria;
    • Mandarino, Alessandra;
    • Alesi, Viola;
    • Schwartz, Charles;
    • Sepulveda, Daniela Judith Claps;
    • Skinner, Cindy;
    • Friez, Michael;
    • Piccolo, Gabriele;
    • Novelli, Antonio;
    • Zanni, Ginevra;
    • Dentici, Maria Lisa;
    • Vicari, Stefano;
    • Alfieri, Paolo
    Publication type:
    Article

  • PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

    Published in:
    Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
    By:
    • Montanaro, Federica Alice Maria;
    • Mandarino, Alessandra;
    • Alesi, Viola;
    • Schwartz, Charles;
    • Claps Sepulveda, Daniela Judith;
    • Skinner, Cindy;
    • Friez, Michael;
    • Piccolo, Gabriele;
    • Novelli, Antonio;
    • Zanni, Ginevra;
    • Dentici, Maria Lisa;
    • Vicari, Stefano;
    • Alfieri, Paolo
    Publication type:
    Article

  • Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

    Published in:
    Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
    By:
    • Sartorelli, Jacopo;
    • Travaglini, Lorena;
    • Macchiaiolo, Marina;
    • Garone, Giacomo;
    • Gonfiantini, Michaela Veronika;
    • Vecchio, Davide;
    • Sinibaldi, Lorenzo;
    • Frascarelli, Flaminia;
    • Ceccatelli, Viola;
    • Petrillo, Sara;
    • Piemonte, Fiorella;
    • Piccolo, Gabriele;
    • Novelli, Antonio;
    • Longo, Daniela;
    • Pro, Stefano;
    • D'Amico, Adele;
    • Bertini, Enrico Silvio;
    • Nicita, Francesco
    Publication type:
    Article