Gazzellone, Annalisa
Gazzellone, Annalisa
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
2025 L'Erario, Federica Francesca; Gazzellone, Annalisa; Contaldo, Ilaria; Veredice, Chiara; Carapelle, Marina; Renzi, Anna Gloria; Modafferi, Clarissa; Palucci, Marta; D'Ambrosio, Pino; Sonnini, Elena; Loberti, Lorenzo; Panfili, A.; Lucci Cordisco, Emanuela; Chiurazzi, Pietro; Trevisan, Valentina; Leoni, Chiara; Zampino, Giuseppe; Pomponi, M. G.; Orteschi, D.; Zollino, Marcella; Marangi, Giuseppe
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure
2025 L'Erario, Federica Francesca; Marangi, Giuseppe; Renzi, Anna Gloria; Carapelle, Marina; Doronzio, Paolo Niccolo'; Pasquetti, D.; Maietta, Sabrina; Sonnini, Elena; Gazzellone, Annalisa; Zollino, Marcella
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
2024 Biolato, Marco; Terranova, Rosy; Viceconti, Nicholas; Marrone, Giuseppe; Miele, Luca; Giustiniani, Maria Cristina; Francalanci, Paola; Gazzellone, Annalisa; Bauleo, Alessia; Falcone, Elena; Genuardi, Maurizio; Grieco, Antonio
From Churchill to Elephants: The Role of Protective Genes against Cancer
2024 Gazzellone, Annalisa; Sangiorgi, Eugenio
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
2023 Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2025 | Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy | L'Erario, Federica Francesca; Gazzellone, Annalisa; Contaldo, Ilaria; Veredice, Chiara; Carapelle, Marina; Renzi, Anna Gloria; Modafferi, Clarissa; Palucci, Marta; D'Ambrosio, Pino; Sonnini, Elena; Loberti, Lorenzo; Panfili, A.; Lucci Cordisco, Emanuela; Chiurazzi, Pietro; Trevisan, Valentina; Leoni, Chiara; Zampino, Giuseppe; Pomponi, M. G.; Orteschi, D.; Zollino, Marcella; Marangi, Giuseppe | |
| 1-gen-2025 | The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure | L'Erario, Federica Francesca; Marangi, Giuseppe; Renzi, Anna Gloria; Carapelle, Marina; Doronzio, Paolo Niccolo'; Pasquetti, D.; Maietta, Sabrina; Sonnini, Elena; Gazzellone, Annalisa; Zollino, Marcella | |
| 1-gen-2024 | A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? | Biolato, Marco; Terranova, Rosy; Viceconti, Nicholas; Marrone, Giuseppe; Miele, Luca; Giustiniani, Maria Cristina; Francalanci, Paola; Gazzellone, Annalisa; Bauleo, Alessia; Falcone, Elena; Genuardi, Maurizio; Grieco, Antonio | |
| 1-gen-2024 | From Churchill to Elephants: The Role of Protective Genes against Cancer | Gazzellone, Annalisa; Sangiorgi, Eugenio | |
| 1-gen-2023 | Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability | Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro |