Found: 3

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  • Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Published in:
    PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
    By:
    • Torella, Annalaura;
    • Fanin, Marina;
    • Mutarelli, Margherita;
    • Peterle, Enrico;
    • Del Vecchio Blanco, Francesca;
    • Rispoli, Rossella;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Piluso, Giulio;
    • Morandi, Lucia;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Angelini, Corrado;
    • Nigro, Vincenzo
    Publication type:
    Article

  • The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

    Published in:
    PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237803
    By:
    • Torella, Annalaura;
    • Zanobio, Mariateresa;
    • Zeuli, Roberta;
    • del Vecchio Blanco, Francesca;
    • Savarese, Marco;
    • Giugliano, Teresa;
    • Garofalo, Arcomaria;
    • Piluso, Giulio;
    • Politano, Luisa;
    • Nigro, Vincenzo
    Publication type:
    Article

  • Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

    Published in:
    Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
    By:
    • Giugliano, Teresa;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Picillo, Esther;
    • Fiorillo, Chiara;
    • D'Amico, Adele;
    • Maggi, Lorenzo;
    • Ruggiero, Lucia;
    • Vercelli, Liliana;
    • Magri, Francesca;
    • Fattori, Fabiana;
    • Torella, Annalaura;
    • Ergoli, Manuela;
    • Rubegni, Anna;
    • Fanin, Marina;
    • Musumeci, Olimpia;
    • Bleecker, Jan De;
    • Peverelli, Lorenzo;
    • Moggio, Maurizio;
    • Mercuri, Eugenio
    Publication type:
    Article