Associated Papers
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.
Abdel-Salam GMH et al.
Journal of Human Genetics, 2025
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Alshammari MJ et al.
Human Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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