Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s002.xlsx › supplementary_table10_v3.01
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Aynekin B et al.
Neurogenetics, 2025
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Alrifai MT et al.
Journal of Child Neurology, 2024
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet A et al.
Clinical Genetics, 2021
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