Publications by authors named "Mathieu Georget"

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CKDx: a necessary step-but can we go further?
Thomas Robert, Mathieu Georget, Yannis Lombardi, Laurent Mesnard

Nephrol Dial Transplant· November 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Mathieu Georget

Am J Hum Genet· April 2025

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Loss of function of ADNP by an intragenic inversion.
Mathieu Georget, Elodie Lejeune, Julien Buratti, Euphrasie Servant, Eric le Guern

Eur J Hum Genet· August 2023

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