FUSTO, GAIA
FUSTO, GAIA
SCIENZE BIOMEDICHE E BIOTECNOLOGICHE
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy
2025-01-01 Falsaperla, Raffaele; Di Salvo, Eliana; Sapuppo, Annamaria; Barberi, Chiara; Sortino, Vincenzo; Fusto, Gaia; Rizzo, Roberta; Pappalardo, Xena Giada; Corsello, Giovanni; Ruggieri, Martino; Romano, Catia; Saccuzzo, Lucia; Fichera, Marco; Bonaglia, Maria Clara
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1
file da validare2025-01-01 Lo Bianco, Manuela; Sipala, Federica; Pappalardo, Xena Giada; Fusto, Gaia; Rizzo, Roberta; Favata, Federico; Cimino, Carla; Marino, Silvia; Ruggieri, Martino; Suppiej, Agnese; Ronsisvalle, Simone; Falsaperla, Raffaele
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
2024-01-01 Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
2025-01-01 Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco
PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review
2024-01-01 Falsaperla, Raffaele; Sortino, Vincenzo; Schinocca, Marina Antonietta; Fusto, Gaia; Rizzo, Roberta; Barberi, Chiara; Ruggieri, Martino; Pappalardo, Xena Giada
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy | 1-gen-2025 | Falsaperla, Raffaele; Di Salvo, Eliana; Sapuppo, Annamaria; Barberi, Chiara; Sortino, Vincenzo; Fusto, Gaia; Rizzo, Roberta; Pappalardo, Xena Giada; Corsello, Giovanni; Ruggieri, Martino; Romano, Catia; Saccuzzo, Lucia; Fichera, Marco; Bonaglia, Maria Clara | |
| Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1 | 1-gen-2025 | Lo Bianco, Manuela; Sipala, Federica; Pappalardo, Xena Giada; Fusto, Gaia; Rizzo, Roberta; Favata, Federico; Cimino, Carla; Marino, Silvia; Ruggieri, Martino; Suppiej, Agnese; Ronsisvalle, Simone; Falsaperla, Raffaele | file da validare |
| GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review | 1-gen-2024 | Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada | |
| PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy? | 1-gen-2025 | Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco | |
| PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review | 1-gen-2024 | Falsaperla, Raffaele; Sortino, Vincenzo; Schinocca, Marina Antonietta; Fusto, Gaia; Rizzo, Roberta; Barberi, Chiara; Ruggieri, Martino; Pappalardo, Xena Giada |