1. Cover Image, Volume 38, Issue 4. Issue 4 (April 2017) Authors: Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartor... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. Issue 4 (7th February 2017) Authors: Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartor... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome. Issue 7 (10th May 2017) Authors: Alesi, Viola; Dentici, Maria L.; Restaldi, Fabrizia; Orlando, Valeria; Liambo, Maria T.; Calacci, Chiara; Capolino, Rossella; Digilio, Maria C.; El Hachem, May; Novelli, Antonio; Diociaiuti, Andrea; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1943 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗