1. 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients. Issue 1 (5th January 2007) Authors: Ballarati, Lucia; Rossi, Elena; Bonati, Maria Teresa; Gimelli, Stefania; Maraschio, Paola; Finelli, Palma; Giglio, Sabrina; Lapi, Elisabetta; Bedeschi, Maria Francesca; Guerneri, Silvana; Arrigo, Giulia; Patricelli, Maria Grazia; Mattina, Teresa; Guzzardi, Oriana; Pecile, Vanna; Police, Adalgisa;... Journal: Journal of medical genetics Issue: Volume 44:Issue 1(2007) Page Start: e60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel stop codon variant affecting ΔNp63 isoforms associated with non‐syndromic limb‐mammary phenotype and uterine cervix dysplasia. Issue 3 (1st December 2020) Authors: Guazzarotti, Laura; Sani, Ilaria; Giglio, Sabrina; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome. (16th June 2016) Authors: Stagi, Stefano; Di Tommaso, Mariarosaria; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Lapi, Elisabetta; Giglio, Sabrina; Dosa, Laura; de Martino, Maurizio Other Names: Kotula-Balak Małgorzata Academic Editor. Journal: International journal of endocrinology Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. (January 2017) Authors: Guidi, Milena; Giunti, Laura; Lucchesi, Maurizio; Scoccianti, Silvia; Giglio, Sabrina; Favre, Claudio; Oliveri, Giuseppe; Sardi, Iacopo Journal: Future oncology Issue: Volume 13:Number 1(2017) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication. Issue 6 (30th April 2013) Authors: Marini, Carla; Cecconi, Antonella; Contini, Elisa; Pantaleo, Marilena; Metitieri, Tiziana; Guarducci, Silvia; Giglio, Sabrina; Guerrini, Renzo; Genuardi, Maurizio Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting. Issue 4 (25th March 2020) Authors: Barone, Rita; Gulisano, Mariangela; Amore, Renata; Domini, Carla; Milana, Maria Chiara; Giglio, Sabrina; Madia, Francesca; Mattina, Teresa; Casabona, Antonino; Fichera, Marco; Rizzo, Renata Journal: International journal of developmental neuroscience Issue: Issue 80:Issue 4(2020:Jun.) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image. (29th June 2020) Authors: Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina Journal: Prenatal diagnosis Issue: Volume 40:Number 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cross‐sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome. (April 2017) Authors: Stagi, Stefano; Di Tommaso, Mariarosaria; Scalini, Perla; Sandini, Elena; Masoni, Fabrizio; Chiarelli, Francesco; Verrotti, Alberto; Giglio, Sabrina; Romano, Silvia; de Martino, Maurizio Journal: Acta pædiatrica Issue: Volume 106:Number 4(2017) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. Issue 11 (13th March 2020) Authors: Squeo, Gabriella Maria; Augello, Bartolomeo; Massa, Valentina; Milani, Donatella; Colombo, Elisa Adele; Mazza, Tommaso; Castellana, Stefano; Piccione, Maria; Maitz, Silvia; Petracca, Antonio; Prontera, Paolo; Accadia, Maria; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Melis, Daniela; Seli... Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 760 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗