1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013) Authors: Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ... Journal: Journal of medical genetics Issue: Volume 50:Issue 8(2013) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation. (23rd November 2014) Authors: Mandrile, Giorgia; Di Gregorio, Eleonora; Calcia, Alessandro; Brussino, Alessandro; Grosso, Enrico; Savin, Elisa; Giachino, Daniela Francesca; Brusco, Alfredo Other Names: Rajcan-Separovic Evica Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes. Issue 2 (18th December 2018) Authors: Giorgio, Elisa; Sirchia, Fabio; Bosco, Martino; Sobreira, Nara Lygia M.; Grosso, Enrico; Brussino, Alessandro; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. Issue 8 (3rd August 2020) Authors: Morbidoni, Valeria; Agolini, Emanuele; Slep, Kevin C; Pannone, Luca; Zuccarello, Daniela; Cassina, Matteo; Grosso, Enrico; Gai, Giorgia; Salviati, Leonardo; Dallapiccola, Bruno; Novelli, Antonio; Martinelli, Simone; Trevisson, Eva Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes. Issue 10 (16th August 2013) Authors: Calcia, Alessandro; Gai, Giorgia; Di Gregorio, Eleonora; Talarico, Flavia; Naretto, Valeria G.; Migone, Nicola; Pepe, Ernesto; Grosso, Enrico; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Controlled audio-visual stimulation for anxiety reduction. (August 2022) Authors: Saiu, Salvatore; Grosso, Enrico Journal: Computer methods and programs in biomedicine Issue: Volume 223(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases. Issue 3 (13th January 2021) Authors: Castellino, Alessia; Elba, Simona; Sorasio, Roberto; Castellino, Claudia; Bonferroni, Margherita; Grasso, Mariella; Grosso, Enrico; Giacchello, Rosalba; Signorile, Anna Franca; Celeghini, Ivana; Mattei, Daniele; Mordini, Nicola; Foglietta, Myriam; Masturzo, Bianca; Priotto, Roberto; Zonta, Andrea... Journal: Clinical case reports Issue: Volume 9:Issue 3(2021) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review. Issue 6 (6th March 2021) Authors: Pavinato, Lisa; Trajkova, Slavica; Grosso, Enrico; Giorgio, Elisa; Bruselles, Alessandro; Radio, Francesca Clementina; Pippucci, Tommaso; Dimartino, Paola; Tartaglia, Marco; Petlichkovski, Aleksandar; De Rubeis, Silvia; Buxbaum, Joseph; Ferrero, Giovanni Battista; Keller, Roberto; Brusco, Alfredo Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. On the Complexity of Visual Judgement of Kinship. (May 2019) Authors: Brodo, Linda; Grosso, Enrico Journal: I-Perception Issue: Volume 10:Number 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Performance analysis of data fragmentation techniques on a cloud server. (16th July 2019) Authors: Santos, Nelson; Lentini, Salvatore; Grosso, Enrico; Ghita, Bogdan; Masala, Giovanni Journal: International journal of grid and utility computing Issue: Volume 10:Number 4(2019) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗