Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Lee S et al.
European Journal of Human Genetics : Ejhg, 2023
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