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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
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- Journal Article
- A1
- open access
Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study
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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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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)