1. Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma. Issue 1 (December 2015) Authors: Grotta, Simona; D'Elia, Gemma; Scavelli, Rossana; Genovese, Silvia; Surace, Cecilia; Sirleto, Pietro; Cozza, Raffaele; Romanzo, Antonino; De Ioris, Maria; Valente, Paola; Tomaiuolo, Anna; Lepri, Francesca; Franchin, Tiziana; Ciocca, Laura; Russo, Serena; Locatelli, Franco; Angioni, Adriano Journal: BMC cancer Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital heart defects in molecularly proven Kabuki syndrome patients. Issue 11 (8th September 2017) Authors: Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 2912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital heart defects in molecularly proven Kabuki syndrome patients. Issue 11 (8th September 2017) Authors: Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 2912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles. Issue 4 (13th October 2016) Authors: Terlizzi, Vito; Castaldo, Giuseppe; Salvatore, Donatello; Lucarelli, Marco; Raia, Valeria; Angioni, Adriano; Carnovale, Vincenzo; Cirilli, Natalia; Casciaro, Rosaria; Colombo, Carla; Di Lullo, Antonella Miriam; Elce, Ausilia; Iacotucci, Paola; Comegna, Marika; Scorza, Manuela; Lucidi, Vincenzina;... Journal: Journal of medical genetics Issue: Volume 54:Issue 4(2017) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hypoplastic left heart syndrome and 21q22.3 deletion. (7th February 2015) Authors: Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot. Issue 12 (16th August 2013) Authors: Digilio, Maria Cristina; Luca, Alessandro De; Lepri, Francesca; Guida, Valentina; Ferese, Rosangela; Dentici, Maria Lisa; Angioni, Adriano; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot. Issue 12 (16th August 2013) Authors: Digilio, Maria Cristina; Luca, Alessandro De; Lepri, Francesca; Guida, Valentina; Ferese, Rosangela; Dentici, Maria Lisa; Angioni, Adriano; Marino, Bruno; Dallapiccola, Bruno Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Issue 2 (3rd October 2014) Authors: Dentici, Maria Lisa; Di Pede, Alessandra; Lepri, Francesca Romana; Gnazzo, Maria; Lombardi, Mary Haywood; Auriti, Cinzia; Petrocchi, Stefano; Pisaneschi, Elisa; Bellacchio, Emanuele; Capolino, Rossella; Braguglia, Annabella; Angioni, Adriano; Dotta, Andrea; Digilio, Maria Cristina; Dallapiccola, ... Journal: Archives of disease in childhood Issue: Volume 100:Issue 2(2015) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. Issue 1 (December 2016) Authors: Diociaiuti, Andrea; El Hachem, May; Pisaneschi, Elisa; Giancristoforo, Simona; Genovese, Silvia; Sirleto, Pietro; Boldrini, Renata; Angioni, Adriano Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two Tumors. Issue 12 (14th July 2015) Authors: De Ioris, Maria Antonietta; Carai, Andrea; Valente, Paola; Angioni, Adriano; Randisi, Francesco; Cozza, Raffaele; Romanzo, Antonino; Marras, Carlo Efisio; Mastronuzzi, Angela Journal: Pediatric blood & cancer Issue: Volume 62:Issue 12(2015:Dec.) Page Start: 2245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗