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. 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) ↗
3. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020) Authors: Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard... Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review. Issue 1 (December 2015) Authors: Stagi, Stefano; Traficante, Giovanna; Lapi, Elisabetta; Pantaleo, Marilena; Becciani, Sabrina; Mortilla, Marzia; Seminara, Salvatore; de Martino, Maurizio Journal: BMC endocrine disorders Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗