1. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues. Issue 20 (8th November 2022) Authors: Romano, Ferruccio; Madia, Francesca; De Marco, Patrizia; Ognibene, Marzia; Guerrisi, Sara; Scala, Marcello; Iacomino, Michele; Baldassari, Simona; Vercellino, Nadia; Manunza, Francesca; Tallone, Ramona; Pavanello, Marco; Piatelli, Gianluca; Garaventa, Alberto; Zara, Federico; Capra, Valeria Journal: Birth defects research Issue: Volume 114:Issue 20(2022) Page Start: 1440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. (10th August 2021) Authors: Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo; Novelli, Giuseppe;... Journal: Neurology Issue: Volume 97:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: Balagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: Balagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. (August 2020) Authors: Accogli, Andrea; Severino, Mariasavina; Riva, Antonella; Madia, Francesca; Balagura, Ganna; Iacomino, Michele; Carlini, Barbara; Baldassari, Simona; Giacomini, Thea; Croci, Carolina; Pisciotta, Livia; Messana, Tullio; Boni, Antonella; Russo, Angelo; Bilo, Leonilda; Tonziello, Rosa; Coppola, Anton... Journal: Seizure Issue: Volume 80(2020) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome. Issue 15 (22nd June 2021) Authors: Romano, Ferruccio; De Marco, Patrizia; Ognibene, Marzia; Di Duca, Marco; Baldassari, Simona; Pavanello, Marco; Piatelli, Gianluca; Zara, Federico; Capra, Valeria Journal: Birth defects research Issue: Volume 113:Issue 15(2021) Page Start: 1161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗