1. A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Issue 5 (8th February 2021) Authors: Carli, Diana; Ferrero, Giovanni Battista; Fusillo, Anna; Coppo, Paola; La Selva, Roberta; Zinali, Federica; Cardaropoli, Simona; Ranieri, Carlotta; Iacoviello, Matteo; Resta, Nicoletta; Mussa, Alessandro Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 719 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bowel loop sign in a newborn. Issue 3 (6th July 2020) Authors: Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio Journal: Archives of disease in childhood Issue: Volume 106:Issue 3(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bowel loop sign in a newborn. Issue 3 (6th July 2020) Authors: Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio Journal: Archives of disease in childhood Issue: Volume 106:Issue 3(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome. Issue 12 (14th October 2020) Authors: Carli, Diana; Gazzin, Andrea; Bongioanni, Maria Roberta; Bergui, Mauro; Mussa, Alessandro; Ferrero, Giovanni Battista Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques. Issue 4 (21st July 2022) Authors: Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; ... Journal: Clinical genetics Issue: Volume 102:Issue 4(2022) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5). Issue 2 (9th December 2020) Authors: Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Constitutional bone impairment in Noonan syndrome. Issue 3 (17th February 2017) Authors: Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Constitutional bone impairment in Noonan syndrome. Issue 3 (March 2017) Authors: Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study. Issue 2 (24th December 2020) Authors: Uliana, Vera; Sebastio, Paola; Riva, Matteo; Carli, Diana; Ruberto, Claudio; Bianchi, Laura; Graziano, Claudio; Capelli, Irene; Faletra, Flavio; Pillon, Roberto; Mattina, Teresa; Sensi, Alberto; Bonatti, Francesco; Percesepe, Antonio Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 2(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Defining an optimal time window to screen for hepatoblastoma in children with Beckwith‐Wiedemann syndrome. Issue 1 (30th September 2018) Authors: Mussa, Alessandro; Duffy, Kelly A.; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M. Journal: Pediatric blood & cancer Issue: Volume 66:Issue 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗