"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- (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
Brain malformations and seizures by impaired chaperonin function of TRiC
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Science - ISSN 1095-9203-386:6721 (2024) p. 516-525
Recognisable neuroradiological findings in five neurogenetic disorders
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Clinical genetics - ISSN 0009-9163-107:1 (2024) p. 13-22
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Source
Brain - ISSN 0006-8950-147:8 (2024) p. 2775-2790