Elucidating the genetic landscape of cerebral palsy following perinatal cerebrovascular events
Source
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
Source
Molecular genetics and metabolism - ISSN 1096-7192-146:3 (2025) p. 1-8
Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) : four-year single center experience
Source
Journal of perinatal medicine - ISSN 0300-5577- (2025) p.
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
Source
European journal of human genetics - ISSN 1018-4813- (2025) p.
RNU4-2-related neurodevelopmental disorder is associated with a recognisable facial gestalt
Source
Clinical genetics - ISSN 0009-9163-107:1 (2025) p. 104-112