1. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. Issue 3 (July 2019) Authors: Gazdagh, Gabriella E.; Wang, Cunyi; McGowan, Ruth; Tobias, Edward S.; Ahmed, S. Faisal Journal: Clinical dysmorphology Issue: Volume 28:Issue 3(2019:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levels. Issue 12 (10th October 2020) Authors: Tobias, Adam P.; Tobias, Edward S. Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Levodopa Response Varies in Pathologically Confirmed Parkinson's Disease: A Systematic Review. Issue 2 (7th January 2020) Authors: Pitz, Vanessa; Malek, Naveed; Tobias, Edward S.; Grosset, Katherine A.; Gentleman, Steve; Grosset, Donald G. Journal: Movement disorders clinical practice Issue: Volume 7:Issue 2(2020) Page Start: 218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗