1. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). Issue 11 (4th September 2015) Authors: Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, ... Journal: Journal of medical genetics Issue: Volume 52:Issue 11(2015) Page Start: 738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image. (29th June 2020) Authors: Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina Journal: Prenatal diagnosis Issue: Volume 40:Number 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome. Issue 7 (3rd April 2014) Authors: Disciglio, Vittoria; Rizzo, Caterina Lo; Mencarelli, Maria Antonietta; Mucciolo, Mafalda; Marozza, Annabella; Di Marco, Chiara; Massarelli, Antonio; Canocchi, Valentina; Baldassarri, Margherita; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Anderlid, Britt Marie; Metcalfe, Kay; Le Caignec, Cédri... Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome. (20th April 2020) Authors: Provenzano, Aldesia; Palazzo, Viviana; Reho, Paolo; Pagliazzi, Angelica; Marozza, Annabella; Farina, Antonio; Zuffardi, Orsetta; Giglio, Sabrina Journal: Prenatal diagnosis Issue: Volume 40:Number 7(2020) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗