11573/1690963 - 2023 -
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; Van Der Smagt, Jasper; Kroes, Hester Y; Van Gassen, Koen L I; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeannine; Ejaz, Resham; Rodan, Lance; Zollino, Marcella; Agrawal, Pankaj B; Del Bene, Filippo; Nigro, Vincenzo; Sweetser, David A; Franco, Brunella - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (Chicago, Ill. : University of Chicago Press for the American Society of Human Genetics) pp. 1377-1393 - issn: 1537-6605 - wos: WOS:001052941700001 (0) - scopus: 2-s2.0-85166520097 (0)