Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

מאת Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia
הוצא לאור ב Front Neurol (2018)

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

מאת Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
הוצא לאור ב BMC Med Genet (2016)

Optimal Position of a Long-Term Central Venous Catheter Tip in a Pediatric Patient with Congenital Diseases

מאת Caruselli, Marco, Galante, Dario, Ficcadenti, Anna, Carboni, Laura, Franco, Federica, Fabrizzi, Benedetta, Amici, Lucia, Giretti, Roberto, Rocchi, Giovanni, Rinaldelli, Giampaolo
הוצא לאור ב Pediatr Rep (2012)

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

מאת Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
הוצא לאור ב Eur J Hum Genet (2015)