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Terhal, P.A.; Nievelstein, R.J.A.J.; Verver, E.J.J.; Topsakal, V.; Dommelen, P. van; Hoornaert, K.; ... ; Mortier, G.R.
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
Article / Letter to editor
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Oetting, W.S.; Robinson, P.N.; Greenblatt, M.S.; Cotton, R.G.; Beck, T.; Carey, J.C.; ... ; Zhao, E.Y.
2013
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
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