RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders : a systematic review
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Genetics in medicine - ISSN 1098-3600-28:4 (2026) p. 1-12
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
Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) : four-year single center experience
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Journal of perinatal medicine - ISSN 0300-5577-54:2 (2026) p. 340-353
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813-34 (2026) p. 45-52
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