1. Clinical findings in a patient with FARS2 mutations and early‐infantile‐encephalopathy with epilepsy. Issue 11 (23rd August 2016) Authors: Raviglione, Federico; Conte, Giorgio; Ghezzi, Daniele; Parazzini, Cecilia; Righini, Andrea; Vergaro, Raffaella; Legati, Andrea; Spaccini, Luigina; Gasperini, Serena; Garavaglia, Barbara; Mastrangelo, Massimo Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 3004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021) Authors: Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D... Journal: Seizure Issue: Volume 88(2021) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. Issue 3 (29th January 2013) Authors: Zara, Federico; Specchio, Nicola; Striano, Pasquale; Robbiano, Angela; Gennaro, Elena; Paravidino, Roberta; Vanni, Nicola; Beccaria, Francesca; Capovilla, Giuseppe; Bianchi, Amedeo; Caffi, Lorella; Cardilli, Viviana; Darra, Francesca; Bernardina, Bernardo Dalla; Fusco, Lucia; Gaggero, Roberto; Gi... Journal: Epilepsia Issue: Volume 54:Issue 3(2013:Mar.) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hepatoblastoma in Rubinstein–Taybi Syndrome: A Case Report. Issue 3 (20th October 2015) Authors: Milani, Donatella; Bonarrigo, Francesca Andrea; Menni, Francesca; Spaccini, Luigina; Gervasini, Cristina; Esposito, Susanna Journal: Pediatric blood & cancer Issue: Volume 63:Issue 3(2016) Page Start: 572 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. L1CAM variants cause two distinct imaging phenotypes on fetal MRI. Issue 10 (12th September 2021) Authors: Accogli, Andrea; Goergen, Stacy; Izzo, Giana; Mankad, Kshitij; Krajden Haratz, Karina; Parazzini, Cecilia; Fahey, Michael; Menzies, Lara; Baptista, Julia; Carpineta, Lucia; Tortora, Domenico; Fulcheri, Ezio; Gaetano Vellone, Valerio; Paladini, Dario; Spaccini, Luigina; Toto, Valentina; Trayers, C... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 10(2021) Page Start: 2004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes. (30th October 2018) Authors: Rustico, Maria Angela; Lanna, Mariano; Faiola, Stefano; Casati, Daniela; Spaccini, Luigina; Righini, Andrea; Parazzini, Cecilia; Napolitano, Marcello; Scelsa, Barbara; Lista, Gianluca; Corti, Carla; Riccipetitoni, Giovanna; Cetin, Irene Journal: Twin research and human genetics Issue: Volume 21:Number 6(2018) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature. (November 2018) Authors: Scelsa, Barbara; Rustico, Mariangela; Righini, Andrea; Parazzini, Cecilia; Balestriero, Marina Antonella; Introvini, Paola; Spaccini, Luigina; Mastrangelo, Massimo; Lista, Gianluca; Zuccotti, Gian Vincenzo; Veggiotti, Pierangelo Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly. (19th May 2022) Authors: Calcaterra, Valeria; Lamberti, Rossella; Viggiano, Claudia; Baldassarre, Paola; Spaccini, Luigina; Alfano, Rosa Maria; Izzo, Giana; Valentini, Laura Grazia; Zuccotti, Gianvincenzo Other Names: Riaño Galán Isolina Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype. Issue 5 (10th February 2016) Authors: Cesaretti, Claudia; Spaccini, Luigina; Righini, Andrea; Parazzini, Cecilia; Conte, Giorgio; Crosti, Francesca; Redaelli, Serena; Bulfamante, Gaetano; Avagliano, Laura; Rustico, Mariangela Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. (11th June 2014) Authors: Cesaretti, Claudia; Spaccini, Luigina; Rustico, Mariangela; Parazzini, Cecilia; Doneda, Chiara; Re, Thomas J.; Righini, Andrea Journal: Prenatal diagnosis Issue: Volume 34:Number 10(2014:Oct.) Page Start: 1015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗