1. Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. Issue 10 (18th June 2020) Authors: Calcagni, Giulio; Gagliostro, Giulia; Limongelli, Giuseppe; Unolt, Marta; De Luca, Enrica; Digilio, Maria C.; Baban, Anwar; Albanese, Sonia B.; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Marasini, Maurizio; Cairell... Other Names: Watanabe Michiko guestEditor. Journal: Birth defects research Issue: Volume 112:Issue 10(2020) Page Start: 725 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. (15th October 2017) Authors: Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, M. Cristina; Baban, Anwar; Albanese, Sonia B.; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; ... Journal: International journal of cardiology Issue: Volume 245(2017) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 173A, Number 7, July 2017. Issue 7 (July 2017) Authors: Kalish, Jennifer M.; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare‐Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez‐Agosto, Julian A.; Mussa, Alessand... Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Front Cover, Volume 40, Issue 6. Issue 6 (21st May 2019) Authors: Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca C.; Molinatto, Cristina; Montin, Davide; Calvo, Pier L.; Ciolfi, Andrea; F... Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022) Authors: Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;... Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 2958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations. Issue 6 (18th March 2019) Authors: Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca C.; Molinatto, Cristina; Montin, Davide; Calvo, Pier L.; Ciolfi, Andrea; F... Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nomenclature and definition in asymmetric regional body overgrowth. Issue 7 (5th May 2017) Authors: Kalish, Jennifer M.; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare‐Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez‐Agosto, Julian A.; Mussa, Alessand... Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1735 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗