Publications by authors named "C Michot"

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Bone sarcomas and cancer predisposition syndromes.
Camille Tlemsani, Gaëlle Bougeard, Marion Gauthier-Villars, Philippe Denizeau, Sarah Winter, Caroline Michot

Bull Cancer· June 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, Caroline Michot

Nat Genet· June 2025

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Loss of function variants in : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).
Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou, Deborah E Seifert, Zakaria Mougin, Caroline Michot

medRxiv· May 2025

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Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Maëlle Charpié, Perrine Brunelle, Geneviève Baujat, Caroline Michot, Julien Van Gils

Eur J Hum Genet· December 2024

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Caroline Michot

J Med Genet· August 2024

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