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(1 - 2 of 2)
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Olson, H.E.; Jean-Marcais, N.; Yang, E.; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; ... ; C4RCD Res Grp 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Article / Letter to editor
open access
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
O'Rawe, J.A.; Wu, Y.Y.; Dorfel, M.J.; Rope, A.F.; Au, P.Y.B.; Parboosingh, J.S.; ... ; Lyon, G.J. 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Article / Letter to editor
metadata only