Carapelle, Marina
Carapelle, Marina
ROMA - Dipartimento di Scienze della vita e sanità pubblica
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
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
2023 Pasquetti, Domizia; Marangi, Giuseppe; Orteschi, D.; Carapelle, Marina; L'Erario, Federica Francesca; Venditti, Romina; Maietta, Sabrina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Veredice, Chiara; Zollino, Marcella
| 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-2023 | Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 | Pasquetti, Domizia; Marangi, Giuseppe; Orteschi, D.; Carapelle, Marina; L'Erario, Federica Francesca; Venditti, Romina; Maietta, Sabrina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Veredice, Chiara; Zollino, Marcella |