Publications by authors named "M Spodenkiewicz"

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Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Frederike L Harms, Christian Müller, Fanny Kortüm, Maja Hempel, Malik Alawi, Marta Spodenkiewicz

Eur J Hum Genet· December 2025

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[Towards an integrative understanding of complex trauma].
Marion Robin, Michel Spodenkiewicz, Jean Belbèze, Maurice Corcos

Encephale· December 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Marta Spodenkiewicz

Nat Genet· June 2025

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Fetal alcohol spectrum disorder and health professionals' awareness of the syndrome: A comparison of practitioners' knowledge in two french regions.
S Daoudi, M Spodenkiewicz, S Robin, M Rébola, P Castera

Arch Pediatr· April 2025

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