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Central nervous system manifestations of LRBA deficiency : case report of two siblings and literature review
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
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Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium : 2020 update
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Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) : new findings from the TOSCA TAND research project