1. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients. Issue 12 (30th September 2015) Authors: Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica; Contaldo, Ilaria; Mercuri, Eugenio; Stefanini, Maria Chiara; Caumes, Roseline; Edery, Patrick; Rossi, Massimiliano; Piccione, Maria; Corsello, Gio... Journal: Journal of medical genetics Issue: Volume 52:Issue 12(2015) Page Start: 804 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation. Issue 10 (8th July 2014) Authors: Lonardo, Fortunato; Di Natale, Paola; Lualdi, Susanna; Acquaviva, Fabio; Cuoco, Cristina; Scarano, Francesca; Maioli, Marianna; Pavone, Luigi Michele; Di Gregorio, Grazia; Filocamo, Mirella; Scarano, Gioacchino Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation. Issue 10 (8th July 2014) Authors: Lonardo, Fortunato; Di Natale, Paola; Lualdi, Susanna; Acquaviva, Fabio; Cuoco, Cristina; Scarano, Francesca; Maioli, Marianna; Pavone, Luigi Michele; Di Gregorio, Grazia; Filocamo, Mirella; Scarano, Gioacchino Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the "Sansevero Chapel"2. Issue 11 (3rd October 2013) Authors: Della Monica, Matteo; Galzerano, Domenico; Di Michele, Sara; Acquaviva, Fabio; Gregorio, Giovanni; Lonardo, Fortunato; Sguazzo, Francesca; Scarano, Francesca; Lama, Diana; Scarano, Gioacchino Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2920 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world1. Issue 4 (26th February 2013) Authors: Della Monica, Matteo; Mauri, Roberto; Scarano, Francesca; Lonardo, Fortunato; Scarano, Gioacchino Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗