1. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. (2nd November 2017) Authors: Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare Journal: Ophthalmic genetics Issue: Volume 38:Number 6(2017) Page Start: 590 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene. (December 2020) Authors: Mastrangelo, Vincenzo; Minardi, Raffaella; Baroni, Maria Chiara; Severi, Giulia; Ambrosini, Enrico; Toni, Francesco; Alvisi, Lara; Licchetta, Laura; Bisulli, Francesca; Tinuper, Paolo; Mostacci, Barbara Journal: Seizure Issue: Volume 83(2020) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. New clinical features in an adult patient with Skraban‐Deardorff syndrome. Issue 1 (21st October 2022) Authors: Innella, Giovanni; Scarano, Emanuela; Palumbo, Pietro; Carella, Massimo; Severi, Giulia Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer. Issue 1 (3rd September 2015) Authors: Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini, Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Issue 5 (1st September 2020) Authors: Minardi, Raffaella; Licchetta, Laura; Baroni, Maria Chiara; Pippucci, Tommaso; Stipa, Carlotta; Mostacci, Barbara; Severi, Giulia; Toni, Francesco; Bergonzini, Luca; Carelli, Valerio; Seri, Marco; Tinuper, Paolo; Bisulli, Francesca Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗