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

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

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Cerebellum Abnormalities, the 5th C in CHARGE Syndrome

Variable phenotypes in individuals with grin2a sequence variants or deletions

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