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Publications by authors named "Mathilde Heulin"

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Samuel M Bradbrook, Gail Graham, Melissa T Carter, Maria Kibaek, Christina Fagerberg, Mathilde Heulin

Am J Med Genet A· January 2026


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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Mathilde Heulin

medRxiv· September 2025


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