Decoding cerebral palsy : from genetic aetiologies to underlying pathomechanisms
Bron
Antwerpen, University of Antwerp, Faculty of Medicine and Health Sciences, 2026,237 p.
Elucidating the genetic landscape of cerebral palsy following perinatal cerebrovascular events
Bron
Pediatric neurology - ISSN 0887-8994-174 (2026) p. 1-7
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia
Bron
Molecular genetics and metabolism - ISSN 1096-7192-146:3 (2025) p. 1-8
A novel cause of type 1 von Willebrand disease : impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants
Bron
Blood - ISSN 0006-4971-146:17 (2025) p. 2133-2144
RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Bron
Genetics in medicine - ISSN 1098-3600-27:4 (2025) p. 1-13