RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
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Genetics in medicine - ISSN 1098-3600-27:4 (2025) p. 1-13
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
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
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