1. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H.... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder. Issue 9 (26th June 2014) Authors: Ben‐Omran, Tawfeg; Lakhani, Shenela; Almureikhi, Mariam; Ali, Rehab; Takahashi, Atsushi; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro; Superti‐Furga, Andrea; Unger, Sheila Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin. Issue 12 (22nd October 2018) Authors: Balobaid, Ameera; Ben‐Omran, Tawfeg; Ramzan, Khushnooda; Altassan, Ruqaiah; Almureikhi, Mariam; Musa, Sara; Al‐Hashmi, Nadia; Al‐Owain, Mohammed; Al‐Zaidan, Hamad; Al‐Hassnan, Zuhair; Imtiaz, Faiqa; Al‐Sayed, Moeenaldeen Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing. (May 2015) Authors: Zarate, Yuri A.; Perry, Hazel; Ben‐Omran, Tawfeg; Sellars, Elizabeth A.; Stein, Quinn; Almureikhi, Mariam; Simmons, Kirk; Klein, Ophir; Fish, Jennifer; Feingold, Murray; Douglas, Jessica; Kruer, Michael C.; Si, Yue; Mao, Rong; McKnight, Dianalee; Gibellini, Federica; Retterer, Kyle; Slavotinek, Anne Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1026 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗