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- Journal Article
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- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
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- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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- Journal Article
- A1
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Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium : 2020 update
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- Journal Article
- A1
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
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STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy
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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients