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Home > For Clinicians > List Of Publications > Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

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Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

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