1. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. Issue 4 (31st January 2017) Authors: Sheereen, Atia; Alaamery, Manal; Bawazeer, Shahad; Al Yafee, Yusra; Massadeh, Salam; Eyaid, Wafaa Journal: Journal of medical genetics Issue: Volume 54:Issue 4(2017) Page Start: 236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Issue 1 (19th May 2020) Authors: Massadeh, Salam; Alhashem, Amal; van de Laar, Ingrid M.B.H.; Alhabshan, Fahad; Ordonez, Natalia; Alawbathani, Salem; Khan, Suliman; Kabbani, Mohamed S.; Chaikhouni, Farah; Sheereen, Atia; Almohammed, Iman; Alghamdi, Bader; Frohn‐Mulder, Ingrid; Ahmad, Salim; Beetz, Christian; Bauer, Peter; Wessel... Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗