Risultati ricerca pubblicazioni

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report

pubblicato su: CLINICAL CASE REPORTS - 2018

Valentini Virginia, Zelli Veronica, Rizzolo Piera, Silvestri Valentina, Alimandi Maurizio, D'Aloia Maria Michela, Giustini Sandra, Calvieri Stefano, Richetta Antonio Giovanni, Monteleone Giovanni, Ottini Laura

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

pubblicato su: NEUROGENETICS - 2020

Santoro Massimo, Perna Alessia, La Rosa Piergiorgio, Petrillo Sara, Piemonte Fiorella, Rossi Salvatore, Riso Vittorio, Nicoletti Tommaso Filippo, Modoni Anna, Pomponi Maria Grazia, Chiurazzi Pietro, Silvestri Gabriella

Risultati ricerca pubblicazioni

PIK3CA c.3140A&gt;G mutation in a patient with suspected Proteus Syndrome: a case report

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report