1. Aortic dilation in Sotos syndrome: An underestimated feature?. Issue 7 (14th April 2020) Authors: Pezzani, Lidia; Mauri, Lucia; Selicorni, Angelo; Peron, Angela; Grasso, Marina; Codazzi, Alessia C.; Rimini, Alessandro; Marchisio, Paola G.; Coviello, Domenico; Colli, Anna; Milani, Donatella Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers. Issue 1 (December 2015) Authors: Vignoli, Aglaia; La Briola, Francesca; Peron, Angela; Turner, Katherine; Vannicola, Chiara; Saccani, Monica; Magnaghi, Elisabetta; Scornavacca, Giulia; Canevini, Maria Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 6 (20th March 2020) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 9 (2nd August 2019) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Corrigendum to "Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A:2316–2320". Issue 4 (April 2014) Authors: Peron, Angela; Schwartz, Charles E. Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1083 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Current concepts on epilepsy management in tuberous sclerosis complex. Issue 3 (26th September 2018) Authors: Canevini, Maria Paola; Kotulska‐Jozwiak, Katarzyna; Curatolo, Paolo; La Briola, Francesca; Peron, Angela; Słowińska, Monika; Strzelecka, Jolanta; Vignoli, Aglaia; Jóźwiak, Sergiusz Other Names: Peron Angela guestEditor.; Northrup Hope guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 3(2018) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Issue 2 (24th November 2022) Authors: Niceta, Marcello; Pizzi, Simone; Inzana, Francesca; Peron, Angela; Bakhtiari, Somayeh; Nizon, Mathilde; Levy, Jonathan; Mancini, Cecilia; Cogné, Benjamin; Radio, Francesca Clementina; Agolini, Emanuele; Cocciadiferro, Dario; Novelli, Antonio; Salih, Mustafa A.; Recalcati, Maria Paola; Arancio, Ro... Journal: Clinical genetics Issue: Volume 103:Issue 2(2023) Page Start: 156 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. (February 2021) Authors: Bain, Jennifer M.; Thornburg, Olivia; Pan, Cheryl; Rome-Martin, Donnielle; Boyle, Lia; Fan, Xiao; Devinsky, Orrin; Frye, Richard; Hamp, Silke; Keator, Cynthia G.; LaMarca, Nicole M.; Maddocks, Alexis B.R.; Madruga-Garrido, Marcos; Niederhoffer, Karen Y.; Novara, Francesca; Peron, Angela; Poole-Di... Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Do patients with tuberous sclerosis complex have an increased risk for malignancies?. Issue 6 (7th April 2016) Authors: Peron, Angela; Vignoli, Aglaia; La Briola, Francesca; Volpi, Angela; Montanari, Emanuele; Morenghi, Emanuela; Ghelma, Filippo; Bulfamante, Gaetano; Cefalo, Graziella; Canevini, Maria Paola Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dramatic relapse of seizures after everolimus withdrawal. (January 2018) Authors: Mingarelli, Alessia; Vignoli, Aglaia; La Briola, Francesca; Peron, Angela; Giordano, Lucio; Banderali, Giuseppe; Canevini, Maria Paola Journal: European journal of paediatric neurology Issue: Volume 22:Number 1(2018:Jan.) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗