Leiden University Scholarly Publications

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: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

: Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

: Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

: A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

: De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment