MAZZOTTA, Concetta
MAZZOTTA, Concetta
DIPARTIMENTO DI MEDICINA MOLECOLARE
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
2026-01-01 Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J.; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies
2026-01-01 Aresi, Carla; Tonelli, Francesca; Mazzotta, Concetta; Serpieri, Valentina; Masiero, Cecilia; Torriani, Camilla; Villani, Simona; Valente, Enza Maria; Forlino, Antonella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome | 1-gen-2026 | Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J.; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria | |
| Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies | 1-gen-2026 | Aresi, Carla; Tonelli, Francesca; Mazzotta, Concetta; Serpieri, Valentina; Masiero, Cecilia; Torriani, Camilla; Villani, Simona; Valente, Enza Maria; Forlino, Antonella |