1. A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. (3rd May 2017) Authors: Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna Journal: British journal of haematology Issue: Volume 181:Number 5(2018) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. (23rd October 2018) Authors: Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia Journal: British journal of haematology Issue: Volume 183:Number 2(2018) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency. Issue 4 (17th August 2022) Authors: Cani, Ilaria; Pondrelli, Federica; Licchetta, Laura; Minardi, Raffaella; Giangregorio, Tania; Mostacci, Barbara; Muccioli, Lorenzo; Di Vito, Lidia; Fetta, Anna; Barba, Carmen; Castioni, Carlo Alberto; Bordugo, Andrea; Tinuper, Paolo; Bisulli, Francesca Journal: Epilepsia open Issue: Volume 7:Issue 4(2022) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim. Issue 1 (30th November 2017) Authors: Pecci, Alessandro; Ragab, Iman; Bozzi, Valeria; De Rocco, Daniela; Barozzi, Serena; Giangregorio, Tania; Ali, Heba; Melazzini, Federica; Sallam, Mohamed; Alfano, Caterina; Pastore, Annalisa; Balduini, Carlo L; Savoia, Anna Journal: EMBO molecular medicine Issue: Volume 10:Issue 1(2018) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗