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
Recognisable neuroradiological findings in five neurogenetic disorders
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Clinical genetics - ISSN 0009-9163-107:1 (2024) p. 13-22
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
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European journal of human genetics - ISSN 1018-4813- (2024) p.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
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European journal of human genetics - ISSN 1018-4813-32 (2024) p. 928-937
Role of CAMK2D in neurodevelopment and associated conditions
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The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20