1. Detection of the first OCA6 Italian patient in a large cohort of albino subjects. Issue 3 (March 2016) Authors: Veniani, Emanuela; Mauri, Lucia; Manfredini, Emanuela; Gesu, Giovanni P.; Patrosso, Maria Cristina; Zelante, Leopoldo; D'Agruma, Leonardo; Del Longo, Alessandra; Mazza, Marco; Piozzi, Elena; Penco, Silvana; Primignani, Paola Journal: Journal of dermatological science Issue: Volume 81:Issue 3(2016:Mar.) Page Start: 208 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Gene‐targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects. Issue 4 (10th March 2014) Authors: Ye, Maoqing; Parente, Fabienne; Li, Xiaodong; Perryman, M. Benjamin; Zelante, Leopoldo; Wynshaw‐Boris, Anthony; Chen, Ju; Grossfeld, Paul Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 966 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genomic and Genetic Disorders Biobank. (20th March 2015) Authors: Fusco, Carmela; Micale, Lucia; Pellico, Maria Teresa; D'Addetta, Ester Valentina; Augello, Bartolomeo; Mandriani, Barbara; De Nittis, Pasquelena; Cocciadiferro, Dario; Malerba, Natascia; Sacco, Michele; Zelante, Leopoldo; Merla, Giuseppe Journal: Open journal of bioresources Issue: Volume 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay. (21st May 2015) Authors: Palumbo, Pietro; Palumbo, Orazio; Leone, Maria Pia; Stallone, Raffaella; Palladino, Teresa; Zelante, Leopoldo; Carella, Massimo Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. (26th November 2014) Authors: Palumbo, Orazio; Palumbo, Pietro; Delvecchio, Maurizio; Palladino, Teresa; Stallone, Raffaella; Crisetti, Matteo; Zelante, Leopoldo; Carella, Massimo Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Molecular Dissection of the VHL Gene in Solitary Capillary Hemangioblastoma of the Central Nervous System. Issue 1 (January 2014) Authors: Muscarella, Lucia Anna; Torre, Annamaria la; Faienza, Augusta; Catapano, Demenico; Bisceglia, Michele; D'Angelo, Vincenzo; Parrella, Paola; Coco, Michelina; Fini, Grazia; Tancredi, Angelo; Zelante, Leopoldo; Fazio, Vito Michele; D'Agruma, Leonardo Journal: Journal of neuropathology and experimental neurology Issue: Volume 73:Issue 1(2014) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci. Issue 11 (7th October 2013) Authors: Garavelli, Livia; Piemontese, Maria Rosaria; Cavazza, Alberto; Rosato, Simonetta; Wischmeijer, Anita; Gelmini, Chiara; Albertini, Enrico; Albertini, Giuseppe; Forzano, Francesca; Franchi, Fabrizia; Carella, Massimo; Zelante, Leopoldo; Superti‐Furga, Andrea Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. (12th July 2010) Authors: Muscarella, Lucia Anna; Guarnieri, Vito; Coco, Michelina; Belli, Serena; Parrella, Paola; Pulcrano, Giuseppe; Catapano, Domenico; D'Angelo, Vincenzo A.; Zelante, Leopoldo; D'Agruma, Leonardo Other Names: Upadhyaya Meena Academic Editor. Journal: Journal of biomedicine and biotechnology Issue: Volume 2010(2010) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR. (27th July 2010) Authors: Muscarella, Lucia Anna; Guarnieri, Vito; Coco, Michelina; Belli, Serena; Parrella, Paola; Pulcrano, Giuseppe; Catapano, Domenico; D'Angelo, Vincenzo A.; Zelante, Leopoldo; D'Agruma, Leonardo Other Names: Upadhyaya Meena Academic Editor. Journal: Journal of biomedicine and biotechnology Issue: Volume 2010(2010) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗