1. 1102 ARRYTHMOGENIC CARDIOMYOPATHY: LESSONS FROM A LARGE FAMILY. (15th December 2022) Authors: Mancinelli, Antonella; Scatigno, Agnese; Iacovoni, Attilio; Abete, Raffaele; Senni, Michele; Iascone, Maria; Iorio, Annamaria Journal: European heart journal supplements Issue: Volume 24(2022)Supplement K Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Child With Ichthyosis and Liver Failure. Issue 3 (September 2017) Authors: Indolfi, Giuseppe; Iascone, Maria; Remaschi, Giulia; Donati, Maria A.; Nesti, Claudia; Rubegni, Anna; Pezzoli, Laura; Buccoliero, Anna M.; Santorelli, Filippo M.; Resti, Massimo Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 65:Issue 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. Issue 8 (7th June 2022) Authors: Franceschi, Roberto; Iascone, Maria; Maitz, Silvia; Marchetti, Daniela; Mariani, Milena; Selicorni, Angelo; Soffiati, Massimo; Maines, Evelina Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2434 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel EP300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency. Issue 7 (28th September 2018) Authors: Saettini, Francesco; Moratto, Daniele; Grioni, Andrea; Maitz, Silvia; Iascone, Maria; Rizzari, Carmelo; Pavan, Fabio; Spinelli, Marco; Bettini, Laura Rachele; Biondi, Andrea; Badolato, Raffaele Journal: Pediatric allergy and immunology Issue: Volume 29:Issue 7(2018) Page Start: 776 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature. Issue 1 (January 2021) Authors: Pelle, Alessandra; Pezzoli, Laura; Apuril, Erika; Iascone, Maria; Selicorni, Angelo Journal: Clinical dysmorphology Issue: Volume 30:Issue 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement. Issue 9 (28th July 2021) Authors: Ruscitti, Federica; Trevisan, Lucia; Rosti, Giulia; Gotta, Fabio; Cianflone, Annalia; Geroldi, Alessandro; Origone, Paola; Pichiecchio, Anna; Viglio, Simona; Iascone, Maria; Mandich, Paola Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. (4th October 2019) Authors: Indellicato, Rossella; Domenighini, Ruben; Malagolini, Nadia; Cereda, Anna; Mamoli, Daniela; Pezzani, Lidia; Iascone, Maria; dall'Olio, Fabio; Trinchera, Marco Journal: Glycobiology Issue: Volume 30:Number 2(2020) Page Start: 95 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis. Issue 12 (27th October 2020) Authors: Spinelli, Valentina; Girolami, Francesca; Marrone, Chiara; Consigli, Veronica; Iascone, Maria; Passantino, Silvia; Porcedda, Giulio; Calabri, Giovanni Battista; De Simone, Luciano; Olivotto, Iacopo; Santoro, Giuseppe; Favilli, Silvia Journal: Clinical case reports Issue: Volume 8:Issue 12(2020) Page Start: 3368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene. Issue 12 (25th June 2022) Authors: Ruscitti, Federica; Cerminara, Maria; Iascone, Maria; Pezzoli, Laura; Rosti, Giulia; Romano, Ferruccio; Ronchetto, Patrizia; Martucciello, Giuseppe; Buratti, Silvia; Buffelli, Francesca; Bocciardi, Renata; Puliti, Aldamaria; Divizia, Maria Teresa Journal: Birth defects research Issue: Volume 114:Issue 12(2022) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. Issue 12 (21st November 2018) Authors: Pezzani, Lidia; Marchetti, Daniela; Cereda, Anna; Caffi, Lorella G.; Manara, Ornella; Mamoli, Daniela; Pezzoli, Laura; Lincesso, Anna R.; Perego, Loredana; Pellicioli, Isabella; Bonanomi, Ezio; Salvoni, Laura; Iascone, Maria Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗