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
Epilepsy phenotypes of Renu syndrome : novel insights from a European multicentre retrospective cohort study
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Seizure: European journal of epilepsy - ISSN 1059-1311-135 (2026) p. 46-55
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency : findings from a retrospective cohort study"
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Acta neurologica Belgica - ISSN 0300-9009-125:5 (2025) p. 1347-1356
RNU4-2-related neurodevelopmental disorder is associated with a recognisable facial gestalt
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Clinical genetics - ISSN 0009-9163-107:1 (2025) p. 104-112
Brain malformations and seizures by impaired chaperonin function of TRiC
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Science - ISSN 1095-9203-386:6721 (2024) p. 516-525