SACCUZZO, LUCIA RITA
SACCUZZO, LUCIA RITA
SCIENZE BIOMEDICHE E BIOTECNOLOGICHE
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome
2020-01-01 Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting
2023-01-01 Saia, Federica; Prato, Adriana; Saccuzzo, Lucia; Madia, Francesca; Barone, Rita; Fichera, Marco; Rizzo, Renata
PARK2 microdeletion in a multiplex family with autism spectrum disorder
2023-01-01 Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
file da validare2025-01-01 Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
2023-01-01 Miceli, Martina; Failla, Pinella; Saccuzzo, Lucia; Galesi, Ornella; Amata, Silvestra; Romano, Corrado; Bonaglia, Maria Clara; Fichera, Marco
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis
2024-01-01 Failla, P.; Saccuzzo, L.; Galesi, O.; Greco, D.; Barresi, V.; Amata, S.; Romano, C.; Fichera, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome | 1-gen-2020 | Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara | |
| Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting | 1-gen-2023 | Saia, Federica; Prato, Adriana; Saccuzzo, Lucia; Madia, Francesca; Barone, Rita; Fichera, Marco; Rizzo, Renata | |
| PARK2 microdeletion in a multiplex family with autism spectrum disorder | 1-gen-2023 | Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata | |
| 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 | file da validare |
| Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes | 1-gen-2023 | Miceli, Martina; Failla, Pinella; Saccuzzo, Lucia; Galesi, Ornella; Amata, Silvestra; Romano, Corrado; Bonaglia, Maria Clara; Fichera, Marco | |
| Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis | 1-gen-2024 | Failla, P.; Saccuzzo, L.; Galesi, O.; Greco, D.; Barresi, V.; Amata, S.; Romano, C.; Fichera, M. |