Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
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Epilepsia - ISSN 0013-9580- (2025) p. 1-15
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
The genetic puzzle of cerebral palsy : results of a monocentric study
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Pediatric neurology - ISSN 0887-8994-161 (2024) p. 1-8
Recognisable neuroradiological findings in five neurogenetic disorders
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Clinical genetics - ISSN 0009-9163-107:1 (2024) p. 13-22