1. 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) ↗
2. 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) ↗
3. 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) ↗
4. 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) ↗
5. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?. Issue 3 (14th January 2020) Authors: Pezzani, Lidia; Pezzoli, Laura; Pansa, Alessandra; Facchinetti, Barbara; Marchetti, Daniela; Scatigno, Agnese; Lincesso, Anna R.; Perego, Loredana; Pingue, Monica; Pellicioli, Isabella; Migliazza, Lucia; Mangili, Giovanna; Galletti, Lorenzo; Giussani, Ursula; Bonanomi, Ezio; Cereda, Anna; Iascone... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome. Issue 2 (April 2020) Authors: Cianci, Paola; Pezzoli, Laura; Maitz, Silvia; Agosti, Massimo; Iascone, Maria; Selicorni, Angelo Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome. Issue 8 (29th April 2014) Authors: Sana, Maria Elena; Spitaleri, Andrea; Spiliotopoulos, Dimitrios; Pezzoli, Laura; Preda, Laura; Musco, Giovanna; Ferrazzi, Paolo; Iascone, Maria Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like syndrome. (20th March 2020) Authors: Saettini, Francesco; Cattoni, Alessandro; D'Angio', Mariella; Corti, Paola; Maitz, Silvia; Pagni, Fabio; Seminati, Davide; Pezzoli, Laura; Iascone, Maria; Biondi, Andrea; Bonanomi, Sonia Journal: British journal of haematology Issue: Volume 189:Number 4(2020) Page Start: e171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Issue 5 (7th April 2015) Authors: Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Joh... Journal: Human mutation Issue: Volume 36:Issue 5(2015:May) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome. Issue 7 (15th May 2020) Authors: Mio, Catia; Fogolari, Federico; Pezzoli, Laura; D'Elia, Angela V.; Iascone, Maria; Damante, Giuseppe Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗