Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsi... Autor Filippo M. Panfili, Andrea Pietrobattista, Davide Vecchio, Michaela V. Gonfiantini, Andrea Bartuli, Marina Macchiaiolo

Získat plný text

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis Autor Davide Vecchio, Marina Macchiaiolo, Michaela V. Gonfiantini, Filippo M. Panfili, Francesco Petrizzelli, Niccolò Liorni, Niccolò Liorni, Fabiana Cortellessa, Lorenzo Sinibaldi, Ippolita Rana, Emanuele Agolini, Dario Cocciadiferro, Nicole Colantoni, Michela Semeraro, Cristiano Rizzo, Annalisa Deodati, Annalisa Deodati, Nicola Cotugno, Nicola Cotugno, Serena Caggiano, Elisabetta Verrillo, Carlotta G. Nucci, Serpil Alkan, Jorge M. Saraiva, Jorge M. Saraiva, Jorge M. Saraiva, Joaquim De Sá, Pedro M. Almeida, Jayanth Krishna, Paola S. Buonuomo, Diego Martinelli, Carlo Dionisi Vici, Viviana Caputo, Andrea Bartuli, Antonio Novelli, Tommaso Mazza, Tommaso Mazza

Získat plný text