1. A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era. Issue 10 (6th October 2022) Authors: Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola Journal: Clinical case reports Issue: Volume 10:Issue 10(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
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) ↗