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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
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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- Journal Article
- A1
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients