IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

nork Passarelli, Chiara, Civino, Adele, Rossi, Marianna N., Cifaldi, Loredana, Lanari, Valentina, Moneta, Gian Marco, Caiello, Ivan, Bracaglia, Claudia, Montinaro, Raffaele, Novelli, Antonio, De Benedetti, Fabrizio, Prencipe, Giusi
Argitaratua izan da Front Genet (2020)

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

nork 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
Argitaratua izan da Eur J Hum Genet (2015)