1. Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. Issue 2 (23rd May 2018) Authors: Digilio, M.C.; Pugnaloni, F.; De Luca, A.; Calcagni, G.; Baban, A.; Dentici, M.L.; Versacci, P.; Dallapiccola, B.; Tartaglia, M.; Marino, B. Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome. Issue 3 (24th January 2018) Authors: Niceta, M.; Margiotti, K.; Digilio, M.C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M.L.; Consoli, F.; Torrente, I.; Ruiz‐Perez, V.L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review. Issue 3 (5th February 2018) Authors: Agolini, E.; Dentici, M.L.; Bellacchio, E.; Alesi, V.; Radio, F.C.; Torella, A.; Musacchia, F.; Tartaglia, M.; Dallapiccola, B.; Nigro, V.; Digilio, M.C.; Novelli, A. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene. Issue 6 (11th April 2018) Authors: Dentici, M.L.; Terracciano, A.; Bellacchio, E.; Capolino, R.; Novelli, A.; Digilio, M.C.; Dallapiccola, B. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗