학술논문
De novo missense variants in phosphatidylinositol kinase PIP5KI. underlie a novel neurodevelopmental syndrome associated with altered phosphoinositide signaling
Document Type
Journal
Author
Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester; van Gassen, Koen L. I.; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeanne; Ejaz, Resham; Rodan, Lance; Zollino, Marcella; Agrawal, Pankaj B.; Del Bene, Filippo; Sweetser, David A.; Franco, Brunella; Nigro, Vincenzo
Source
Subject
Language
English
ISSN
14765438