Preview | Issue Date | Title | Author(s) |
| 2015 | 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 | Terhal, P.; Nievelstein, R.; Verver, E.; Topsakal, V.; van Dommelen, P.; Hoornaert, K.; Le Merrer, M.; Zankl, A.; Simon, M.; Smithson, S.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; van der Hout, A.; Veenstra-Knol, H.; Herkert, J.; et al. |
| 2012 | Development in children with achondroplasia: a prospective clinical cohort study | Ireland, P.; Donaghey, S.; McGill, J.; Zankl, A.; Ware, R.; Pacey, V.; Ault, J.; Savarirayan, R.; Sillence, D.; Thompson, E.; Townshend, S.; Johnston, L. |
| 2010 | Developmental milestones in infants and young Australasian children with achondroplasia | Ireland, P.; Johnson, S.; Donaghey, S.; Johnston, L.; McGill, J.; Zankl, A.; Ware, R.; Pacey, V.; Ault, J.; Savarirayan, R.; Sillence, D.; Thompson, E.; Townshend, S. |
| 2011 | Functional performance in young Australian children with achondroplasia | Ireland, P.; McGill, J.; Zankl, A.; Ware, R.; Pacey, V.; Ault, J.; Savarirayan, R.; Sillence, D.; Thompson, E.; Townshend, S.; Johnston, L. |
| 2012 | Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years | Ireland, P.; Johnson, S.; Donaghey, S.; Johnston, L.; Ware, R.; Zankl, A.; Pacey, V.; Ault, J.; Savarirayan, R.; Sillence, D.; Thompson, E.; Townshend, S.; McGill, J. |
| 2011 | TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families | Andreucci, E.; Aftimos, S.; Alcausin, M.; Haan, E.; Hunter, W.; Kannu, P.; Kerr, B.; McGillivray, G.; McKinlay Gardner, R.; Patricelli, M.; Sillence, D.; Thompson, E.; Zacharin, M.; Zankl, A.; Lamande, S.; Savarirayan, R. |