Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

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Somatic Mutations in Cerebral Cortical Malformations

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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

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Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

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The landscape of epilepsy-related GATOR1 variants

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Medicine, Genetics, Molecular Genetics +17