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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.R.; Heymann, G.; Wang, T.Y.; Coe, B.P.; Turner, T.N.; Stessman, H.A.F.; ... ; Eichler, E.E. 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Article / Letter to editor
open access
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Koolen, D.A.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.E.; Conta, J.H.; ... ; DDD Study 2016
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Article / Letter to editor
metadata only
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.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
metadata only