Found: 6

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  • A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7631, doi. 10.3390/ijms21207631
    By:
    • Antona, Vincenzo;
    • Scalia, Federica;
    • Giorgio, Elisa;
    • Radio, Francesca C.;
    • Brusco, Alfredo;
    • Oliveri, Massimiliano;
    • Corsello, Giovanni;
    • Lo Celso, Fabrizio;
    • Vadalà, Maria;
    • Conway de Macario, Everly;
    • Macario, Alberto J. L.;
    • Cappello, Francesco;
    • Giuffrè, Mario
    Publication type:
    Article

  • POGZ‐related epilepsy: Case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206
    By:
    • Ferretti, Alessandro;
    • Barresi, Sabina;
    • Trivisano, Marina;
    • Ciolfi, Andrea;
    • Dentici, Maria L.;
    • Radio, Francesca C.;
    • Vigevano, Federico;
    • Tartaglia, Marco;
    • Specchio, Nicola
    Publication type:
    Article

  • Small 4p16.3 deletions: Three additional patients and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
    By:
    • Bernardini, Laura;
    • Radio, Francesca C.;
    • Acquaviva, Fabio;
    • Gorgone, Cristina;
    • Postorivo, Diana;
    • Torres, Barbara;
    • Alesi, Viola;
    • Magliozzi, Monia;
    • Lonardo, Fortunato;
    • Monica, Matteo Della;
    • Nardone, Anna M.;
    • Cesario, Claudia;
    • Mattina, Teresa;
    • Scarano, Gioacchino;
    • Dallapiccola, Bruno;
    • Digilio, Maria C.;
    • Novelli, Antonio
    Publication type:
    Article

  • A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

    Published in:
    British Journal of Haematology, 2009, v. 147, n. 3, p. 379, doi. 10.1111/j.1365-2141.2009.07834.x
    By:
    • Létocart, Emilie;
    • Le Gac, Gérald;
    • Majore, Silvia;
    • Ka, Chandran;
    • Radio, Francesca C.;
    • Gourlaouen, Isabelle;
    • De Bernardo, Carmelilia;
    • Férec, Claude;
    • Grammatico, Paola
    Publication type:
    Article

  • Front Cover, Volume 40, Issue 6.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article

  • NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article