Decoding cerebral palsy : from genetic aetiologies to underlying pathomechanisms
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Antwerpen, University of Antwerp, Faculty of Medicine and Health Sciences, 2026,237 p.
Elucidating the genetic landscape of cerebral palsy following perinatal cerebrovascular events
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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
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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
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Blood - ISSN 0006-4971-146:17 (2025) p. 2133-2144
RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
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Genetics in medicine - ISSN 1098-3600-27:4 (2025) p. 1-13