1. A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations. Issue 7 (2nd May 2020) Authors: Pascolini, Giulia; Agolini, Emanuele; Fleischer, Nicole; Gulotta, Elisa; Cesario, Claudia; D'Elia, Gemma; Novelli, Antonio; Majore, Silvia; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. (June 2019) Authors: Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola Journal: Psychiatric genetics Issue: Volume 29:Number 3(2019:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses. Issue 3 (21st December 2015) Authors: Castori, Marco; Servadei, Francesca; Laino, Luigi; Pascolini, Giulia; Fabbri, Romano; Cifani, Anna Elisabetta; Sforzolini, Giovanna Scassellati; Silvestri, Evelina; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome. Issue 4 (13th January 2021) Authors: Majore, Silvia; Agolini, Emanuele; Micale, Lucia; Pascolini, Giulia; Zuppi, Paolo; Cocciadiferro, Dario; Morlino, Silvia; Mattiuzzo, Matteo; Valiante, Michele; Castori, Marco; Novelli, Antonio; Grammatico, Paola Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance. Issue 5 (7th February 2022) Authors: Pascolini, Giulia; Gnazzo, Maria; Novelli, Antonio; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Issue 3 (28th December 2021) Authors: Pascolini, Giulia; Passarelli, Chiara; Lipari, Martina; Chandramouli, Balasubramanian; Chillemi, Giovanni; Di Giosaffatte, Niccolo'; Novelli, Antonio; Grammatico, Paola Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type. (March 2015) Authors: Castori, Marco; Morlino, Silvia; Pascolini, Giulia; Blundo, Carlo; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 169:Number 1(2015:Jan.) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. (May 2018) Authors: Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina Journal: European journal of paediatric neurology Issue: Volume 22:Number 3(2018:May) Page Start: 552 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry. Issue 3 (12th December 2020) Authors: Pascolini, Giulia; Gaudioso, Federica; Fadda, Maria Teresa; Laino, Luigi; Ferraris, Alessandro; Grammatico, Paola Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients. (August 2017) Authors: Margiotti, Katia; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; De Luca, Alessandro Journal: Archives of oral biology Issue: Volume 80(2017) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗