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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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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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- Journal Article
- A1
- open access
Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
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- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Reintegration into school of childhood brain tumor survivors: a qualitative study using the International Classification of functioning, disability and Health - Children and Youth framework
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Attending school after treatment for a brain tumor : experiences of children and key figures
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- Journal Article
- A1
- open access
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
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- Journal Article
- A1
- open access
First line management of prolonged convulsive seizures in children and adults : good practice points