1. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome. Issue 2 (28th November 2017) Authors: Palumbo, Pietro; Accadia, Maria; Leone, Maria P.; Palladino, Teresa; Stallone, Raffaella; Carella, Massimo; Palumbo, Orazio Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. Issue 11 (13th March 2020) Authors: Squeo, Gabriella Maria; Augello, Bartolomeo; Massa, Valentina; Milani, Donatella; Colombo, Elisa Adele; Mazza, Tommaso; Castellana, Stefano; Piccione, Maria; Maitz, Silvia; Petracca, Antonio; Prontera, Paolo; Accadia, Maria; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Melis, Daniela; Seli... Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 760 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Issue 2 (7th March 2022) Authors: Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De... Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription. Issue 9 (25th July 2019) Authors: Di Stolfo, Giuseppe; Accadia, Maria; Mastroianno, Sandra; Leone, Maria P.; Palumbo, Orazio; Palumbo, Pietro; Potenza, Domenico; Maccarone, Pasquale; Sacco, Michele; Russo, Aldo; Carella, Massimo Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pericardial thrombus and cardiac tamponade after pericardiocentesis with intact heart walls. Issue 4 (6th February 2019) Authors: Accadia, Maria; Di Maio, Marco; Iengo, Raffaele; Arnese, Mariarosaria; Cocchia, Renato; Scotto Di Uccio, Fortunato; Tuccillo, Andrea; Mercogliano, Giuseppe; Tuccillo, Bernardino Journal: Echocardiography Issue: Volume 36:Issue 4(2019) Page Start: 803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Issue 18 (28th April 2021) Authors: Botta, Elena; Theil, Arjan F; Raams, Anja; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Accadia, Maria; Lombardi, Anita; Smith, Desiree E C; Mendes, Marisa I; Swagemakers, Sigrid M A; van der Spek, Peter J; Salomons, Gajja S; Hoeijmakers, Jan H J; Yesodharan, Dhanya; Nampoothiri, Sheel... Journal: Human molecular genetics Issue: Volume 30:Issue 18(2021) Page Start: 1711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗