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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Neuroradiologic abnormalities in CHARGE syndrome and guidelines for cranial imaging

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

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