Publications by authors named "M P Moizard"

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Further phenotypical delineation of DLG3-related neurodevelopmental disorders.
Marlène Malbos, Thierry Gautier, Amelle Shillington, Estelle Colin, Xavier Le Guillou, Marie-Pierre Moizard

Eur J Hum Genet· December 2025

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Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
A Civit, L Kerbellec, D Laurenceau, D C Ung, M P Moizard

Am J Med Genet A· November 2025

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[The absence of a physical examination by a psychiatrist is unethical].
Mathilde Moizard, Pierre A Geoffroy

Encephale· April 2025

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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.
Antoine Civit, Nathalie Ronce, Benjamin Cogné, Thomas Besnard, David Laurenceau, Marie-Pierre Moizard

Clin Genet· February 2025

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Médéric Jeanne, Marie-Laure Vuillaume, Dévina C Ung, Valerie E Vancollie, Christel Wagner, Marie-Pierre Moizard

Hum Genet· June 2021

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