Elucidating the genetic landscape of cerebral palsy following perinatal cerebrovascular events
Source
Pediatric neurology - ISSN 0887-8994-174 (2026) p. 1-7
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin : a case study
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Clinical epigenetics - ISSN 1868-7075-17:1 (2025) p. 1-12
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia
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Molecular genetics and metabolism - ISSN 1096-7192-146:3 (2025) p. 1-8
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency : findings from a retrospective cohort study"
Source
Acta neurologica Belgica - ISSN 0300-9009- (2025) p.
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Source
Epilepsia - ISSN 0013-9580-66:5 (2025) p. 1613-1627