BARONE, MARIA CHIARA
BARONE, MARIA CHIARA
DIPARTIMENTO DI BIOLOGIA E BIOTECNOLOGIE "CHARLES DARWIN"
A novel PAK3 missense mutation associated with intellectual disability: molecular and clinical delineation
2025 Barone, Maria Chiara; Zara, Erika; Ronco, Alessia Bruna Petronilla; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona
CLINICAL AND FUNCTIONAL PROFILING OF CDC42 VARIANTS AFFECTING DEVELOPMENT
2025 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.
Functional characterization of a novel RAC1 variant causing a neurodevelopmental condition with Noonan syndrome features
2024 Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona
FUNCTIONAL CHARACTERIZATION OF A NOVEL RAC1 VARIANT CAUSING A NEURODEVELOPMENTAL CONDITION WITH NOONAN SYNDROME FEATURES
2026 Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona
Functional characterization of de novo CDC42 missense mutations underlying immune-hematolological or otopalatodigital phenotypes
2024 Zara, Erika; Spadaro, Francesca; Barone, Maria Chiara; Ferruti, Emma; Pannone, Luca; Petit, Florence; Vaisfeld, Alessandro; Martinelli, Simone; Tartaglia, Marco; Coppola, Simona
Identification and functional characterization of a novel PAK3 missense mutation associated with intellectual disability
2025 Zara, Erika; Barone, Maria Chiara; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel PAK3 missense mutation associated with intellectual disability: molecular and clinical delineation | 2025 | Barone, Maria Chiara; Zara, Erika; Ronco, Alessia Bruna Petronilla; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona | |
| CLINICAL AND FUNCTIONAL PROFILING OF CDC42 VARIANTS AFFECTING DEVELOPMENT | 2025 | 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. | |
| Functional characterization of a novel RAC1 variant causing a neurodevelopmental condition with Noonan syndrome features | 2024 | Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona | |
| FUNCTIONAL CHARACTERIZATION OF A NOVEL RAC1 VARIANT CAUSING A NEURODEVELOPMENTAL CONDITION WITH NOONAN SYNDROME FEATURES | 2026 | Barone, Maria Chiara; Zara, Erika; Spadaro, Francesca; Leenders, Erika; Tartaglia, Marco; Coppola, Simona | |
| Functional characterization of de novo CDC42 missense mutations underlying immune-hematolological or otopalatodigital phenotypes | 2024 | Zara, Erika; Spadaro, Francesca; Barone, Maria Chiara; Ferruti, Emma; Pannone, Luca; Petit, Florence; Vaisfeld, Alessandro; Martinelli, Simone; Tartaglia, Marco; Coppola, Simona | |
| Identification and functional characterization of a novel PAK3 missense mutation associated with intellectual disability | 2025 | Zara, Erika; Barone, Maria Chiara; Tondo, Mariateresa; Gardham, Alice; Tartaglia, Marco; Coppola, Simona |