1. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Issue 2 (1st December 2015) Authors: Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M.; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Gi... Journal: American journal of medical genetics Issue: Volume 171:Issue 2(2016) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 170A, Number 7, July 2016. Issue 7 (17th June 2016) Authors: Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. (May 2017) Authors: Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoro... Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Metabolic progression to clinical phenotype in classic Fabry disease. Issue 1 (December 2017) Authors: Spada, Marco; Kasper, David; Pagliardini, Veronica; Biamino, Elisa; Giachero, Silvana; Porta, Francesco Journal: Italian journal of pediatrics Issue: Volume 43:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE. (29th May 2021) Authors: Migliorero, Martina; Kalantari, Silvia; Bracciamà, Valeria; Sorbini, Monica; Arruga, Francesca; Peruzzi, Licia; Biamino, Elisa; Amoroso, Antonio; Vaisitti, Tiziana; Deaglio, Silvia Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Issue 7 (9th April 2014) Authors: Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola;... Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022) Authors: Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl... Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Playing competitive basketball in face of late‐onset pompe disease. Issue 2 (23rd December 2014) Authors: Porta, Francesco; Pagliardini, Veronica; Roasio, Luca; Biamino, Elisa; Spada, Marco Journal: Muscle & nerve Issue: Volume 51:Issue 2(2015:Feb.) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prevention and management of hearing loss in syndromic craniosynostosis: A case series. (June 2016) Authors: Biamino, Elisa; Canale, Andrea; Lacilla, Michelangelo; Marinosci, Annalisa; Dagna, Federico; Genitori, Lorenzo; Peretta, Paola; Silengo, Margherita; Albera, Roberto; Ferrero, Giovanni Battista Journal: International journal of pediatric otorhinolaryngology Issue: Volume 85(2016:Jun.) Page Start: 95 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗