11. Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome. Issue 1 (December 2015) Authors: Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela Journal: Molecular cytogenetics Issue: Volume 8:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects. Issue 3 (24th May 2021) Authors: Guida, Valentina; Sparascio, Francesca Piceci; Bernardini, Laura; Pancheri, Francesco; Melis, Daniela; Cocciadiferro, Dario; Pagnoni, Mario; Puzzo, Marianna; Goldoni, Marina; Barone, Chiara; Hozhabri, Hossein; Putotto, Carolina; Giuffrida, Maria Grazia; Briuglia, Silvana; Palumbo, Orazio; Bianca,... Journal: Clinical genetics Issue: Volume 100:Issue 3(2021) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Issue 11 (2nd October 2013) Authors: Gervasini, Cristina; Russo, Silvia; Cereda, Anna; Parenti, Ilaria; Masciadri, Maura; Azzollini, Jacopo; Melis, Daniela; Aravena, Teresa; Doray, Bérénice; Ferrarini, Alessandra; Garavelli, Livia; Selicorni, Angelo; Larizza, Lidia Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype. Issue 10 (17th June 2016) Authors: Menke, Leonie A.; van Belzen, Martine J.; Alders, Marielle; Cristofoli, Francesca; Ehmke, Nadja; Fergelot, Patricia; Foster, Alison; Gerkes, Erica H.; Hoffer, Mariëtte J. V.; Horn, Denise; Kant, Sarina G.; Lacombe, Didier; Leon, Eyby; Maas, Saskia M.; Melis, Daniela; Muto, Valentina; Park, Soo‐Mi... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. 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) ↗
16. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. Issue 4 (26th February 2020) Authors: Rossi, Alessandro; Hoogeveen, Irene J.; Bastek, Vanessa B.; de Boer, Foekje; Montanari, Chiara; Meyer, Uta; Maiorana, Arianna; Bordugo, Andrea; Dianin, Alice; Campana, Carmen; Rigoldi, Miriam; Kishnani, Priya S.; Pendyal, Surekha; Strisciuglio, Pietro; Gasperini, Serena; Parenti, Giancarlo; Parin... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. (4th March 2019) Authors: Mackay, Deborah J.G.; Bliek, Jet; Lombardi, Maria Paola; Russo, Silvia; Calzari, Luciano; Guzzetti, Sara; Izzi, Claudia; Selicorni, Angelo; Melis, Daniela; Temple, Karen; Maher, Eamonn; Brioude, Frédéric; Netchine, Irène; Eggermann, Thomas Journal: Genetical research Issue: Volume 101(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016) Authors: Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div... Journal: Clinical epigenetics Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. Issue 1 (5th May 2012) Authors: Sechi, Annalisa; Deroma, Laura; Lapolla, Annunziata; Paci, Sabrina; Melis, Daniela; Burlina, Alberto; Carubbi, Francesca; Rigoldi, Miriam; Di Rocco, Maja Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. 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) ↗