1. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Issue 2 (10th November 2010) Authors: Dimitrov, Boyan; Balikova, Irina; de Ravel, Thomy; Van Esch, Hilde; De Smedt, Maryse; Baten, Emiel; Vermeesch, Joris Robert; Bradinova, Irena; Simeonov, Emil; Devriendt, Koen; Fryns, Jean-Pierre; Debeer, Philippe Journal: Journal of medical genetics Issue: Volume 48:Issue 2(2011) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients. Issue 1 (26th March 2022) Authors: Bradinova, Irena; Andonova, Silvia; Vazharova, Radoslava; Tomova, Stiliyana; Balabanski, Lubomir; Savov, Alexey Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗