Found: 4

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  • Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

    Published in:
    2021
    By:
    • Casto, Celeste;
    • Dipasquale, Valeria;
    • Ceravolo, Ida;
    • Gambadauro, Antonella;
    • Aliberto, Emanuela;
    • Galletta, Karol;
    • Granata, Francesca;
    • Ceravolo, Giorgia;
    • Falzia, Emanuela;
    • Riva, Antonella;
    • Piccolo, Gianluca;
    • Cutrupi, Maria Concetta;
    • Striano, Pasquale;
    • Accogli, Andrea;
    • Zara, Federico;
    • Di Rosa, Gabriella;
    • Gitto, Eloisa;
    • Calì, Elisa;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo
    Publication type:
    Case Study

  • The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications.

    Published in:
    Genes, 2023, v. 14, n. 12, p. 2111, doi. 10.3390/genes14122111
    By:
    • Scorrano, Giovanna;
    • David, Emanuele;
    • Calì, Elisa;
    • Chimenz, Roberto;
    • La Bella, Saverio;
    • Di Ludovico, Armando;
    • Di Rosa, Gabriella;
    • Gitto, Eloisa;
    • Mankad, Kshitij;
    • Nardello, Rosaria;
    • Mangano, Giuseppe Donato;
    • Leoni, Chiara;
    • Ceravolo, Giorgia
    Publication type:
    Article

  • Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

    Published in:
    2022
    By:
    • Borgia, Paola;
    • Baldassari, Simona;
    • Pedemonte, Nicoletta;
    • Alkhunaizi, Ebba;
    • D'Onofrio, Gianluca;
    • Tortora, Domenico;
    • Calì, Elisa;
    • Scudieri, Paolo;
    • Balagura, Ganna;
    • Musante, Ilaria;
    • Diana, Maria Cristina;
    • Pedemonte, Marina;
    • Vari, Maria Stella;
    • Iacomino, Michele;
    • Riva, Antonella;
    • Chimenz, Roberto;
    • Mangano, Giuseppe D.;
    • Mohammadi, Mohammad Hasan;
    • Toosi, Mehran Beiraghi;
    • Ashrafzadeh, Farah
    Publication type:
    journal article

  • Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

    Published in:
    Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
    By:
    • Accogli, Andrea;
    • Lu, Shenzhao;
    • Musante, Ilaria;
    • Scudieri, Paolo;
    • Rosenfeld, Jill A.;
    • Severino, Mariasavina;
    • Baldassari, Simona;
    • Iacomino, Michele;
    • Riva, Antonella;
    • Balagura, Ganna;
    • Piccolo, Gianluca;
    • Minetti, Carlo;
    • Roberto, Denis;
    • Xia, Fan;
    • Razak, Razaali;
    • Lawrence, Emily;
    • Hussein, Mohamed;
    • Chang, Emmanuel Yih-Herng;
    • Holick, Michelle;
    • Calì, Elisa
    Publication type:
    Article