1. Borderline cognitive level in a family with Bazex‐Dupré‐Christol syndrome. (28th March 2015) Authors: Gonfiantini, Michaela Veronika; Armando, Marco; Pucciarini, Maria Laura; Macchiaiolo, Marina; Buonuomo, Paola Sabrina; Diociaiuti, Andrea; Lepri, Francesca Romana; Sirleto, Pietro; Vicari, Stefano; Bartuli, Andrea Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Dysregulated miRNAs in bone cells of patients with Gorham‐Stout disease. Issue 3 (20th February 2021) Authors: Rossi, Michela; Rana, Ippolita; Buonuomo, Paola Sabrina; Battafarano, Giulia; Mariani, Eda; D'Agostini, Matteo; Porzio, Ottavia; De Martino, Viviana; Minisola, Salvatore; Macchiaiolo, Marina; De Vito, Rita; Vecchio, Davide; Gonfiantini, Michaela Veronika; Jenkner, Alessandro; Bartuli, Andrea; Del... Journal: FASEB journal Issue: Volume 35:Issue 3(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Erythropoietic protoporphyria in a boy. Issue 1 (12th November 2014) Authors: Buonuomo, Paola Sabrina; Macchiaiolo, Marina; Gonfiantini, Michaela Veronika; Biolcati, Gianfranco; Pitisci, Angela; Villani, Alberto; Bartuli, Andrea Journal: Archives of disease in childhood Issue: Volume 100:Issue 1(2015) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evolocumab in the management of children <10 years of age affected by homozygous familial hypercholesterolemia. (May 2021) Authors: Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Leone, Giovanna; Rana, Ippolita; Gonfiantini, Michaela Veronika; Macchiaiolo, Marina; Vecchio, Davide; Gnazzo, Maria; Bartuli, Andrea Journal: Atherosclerosis Issue: Volume 324(2021) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up. Issue 2 (21st May 2022) Authors: Vecchio, Davide; Cocciadiferro, Dario; Macchiaiolo, Marina; Gonfiantini, Michaela Veronika; Agolini, Emanuele; Matraxia, Marta; Carboni, Alessia; Coretti, Antonella; Villani, Andrea; Panfili, Filippo Maria; Dentici, Maria Lisa; Buonuomo, Paola Sabrina; Rana, Ippolita; Colafati, Giovanna Stefania;... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant. Issue 5 (23rd June 2020) Authors: Mastrogiorgio, Gerarda; Buonuomo, Paola Sabrina; Rana, Ippolita; Macchiaiolo, Marina; Marchetti, Paola; De Peppo, Francesco; Rinelli, Martina; Gonfiantini, Michaela Veronika; Novelli, Antonio; Bartuli, Andrea Journal: Archives of disease in childhood Issue: Volume 106:Issue 5(2021) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome. Issue 11 (18th September 2020) Authors: Macchiaiolo, Marina; Panfili, Filippo Maria; Gonfiantini, Michaela Veronika; Mastrogiorgio, Gerarda; Buonuomo, Paola Sabrina; Gaspari, Stefania; Longo, Daniela; Zollino, Marcella; Bartuli, Andrea Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2746 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Persistent neck pain in a girl: Klippel-Feil syndrome. Issue 3 (28th November 2013) Authors: Buonuomo, Paola Sabrina; Macchiaiolo, Marina; Colafati, Giovanna Stefania; Rana, Ippolita; Tomà, Paolo; Gonfiantini, Michaela Veronika; Bartuli, Andrea Journal: Archives of disease in childhood Issue: Volume 99:Issue 3(2014) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗