11573/1768287 - 2026 -
FUNCTIONAL CHARACTERIZATION OF A NOVEL RAC1 VARIANT CAUSING A NEURODEVELOPMENTAL CONDITION WITH NOONAN SYNDROME FEATURES Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona - 04d Abstract in atti di convegno
conference: PhD day 2026 of Istituto Superiore di Sanità (Rome, Italy)
book: ISTISAN congressi - ()
11573/1768284 - 2025 -
Identification and functional characterization of a novel PAK3 missense mutation associated with intellectual disability Zara, Erika; Barone, Maria Chiara; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona - 04d Abstract in atti di convegno
conference: European Society of Human Genetics (ESHG) (Milano)
book: Abstracts from the 58th European Society of Human Genetics (ESHG) Conference: ePosters - ()
11573/1768293 - 2025 -
A novel PAK3 missense mutation associated with intellectual disability: molecular and clinical delineation Barone, Maria Chiara; Zara, Erika; Ronco, Alessia Bruna Petronilla; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona - 04f Poster
conference: XXVIII CONGRESSO NAZIONALE SIGU 2025 (Rimini, Italy)
book: Archivi SIGU XXVIII - ()
11573/1768295 - 2025 -
CLINICAL AND FUNCTIONAL PROFILING OF CDC42 VARIANTS AFFECTING DEVELOPMENT Zara, E.; Pannone, L.; Mosaddeghzadeh, N.; Barone, M. C.; Di Rocco, M.; Mirzaiebadizi, A.; Spadaro, F.; Ronco, A. B. P.; Tondo, M.; Krumbach, O.; Petit, F.; Vaisfeld, A.; Radio, C.; Reza Ahmadian, Mohammad; Martinelli, S.; Tartaglia, M.; Coppola, S. - 04f Poster
conference: XXVIII CONGRESSO NAZIONALE SIGU 2025 (Rimini, Italy)
book: Archivi SIGU XXVIII - ()
11573/1768288 - 2024 -
Functional characterization of a novel RAC1 variant causing a neurodevelopmental condition with Noonan syndrome features Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona - 04f Poster
conference: XXVII CONGRESSO NAZIONALE SIGU 2024 (Padova, Italy)
book: Archivi SIGU XXVII - ()
11573/1768291 - 2024 -
Functional characterization of de novo CDC42 missense mutations underlying immune-hematolological or otopalatodigital phenotypes Zara, Erika; Spadaro, Francesca; Barone, Maria Chiara; Ferruti, Emma; Pannone, Luca; Petit, Florence; Vaisfeld, Alessandro; Martinelli, Simone; Tartaglia, Marco; Coppola, Simona - 04f Poster
conference: XXVII CONGRESSO NAZIONALE SIGU 2024 (Padova, Italy)
book: Archivi SIGU XXVII - ()