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
Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients
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Pediatric neurology - ISSN 0887-8994-158 (2024) p. 57-65
Role of CAMK2D in neurodevelopment and associated conditions
Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
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Heliyon - ISSN 2405-8440-10:1 (2024) p. 1-5
Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum
Source
American journal of medical genetics : part A - ISSN 1552-4825-191:9 (2023) p. 2451-2453