Publications by authors named "A Civit"

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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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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

Clin Genet· February 2025

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Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Antoine Civit

Brain· November 2024

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A lightweight xAI approach to cervical cancer classification.
Javier Civit-Masot, Francisco Luna-Perejon, Luis Muñoz-Saavedra, Manuel Domínguez-Morales, Anton Civit

Med Biol Eng Comput· August 2024

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Classification of skin blemishes with cell phone images using deep learning techniques.
José Antonio Rangel-Ramos, Francisco Luna-Perejón, Anton Civit, Manuel Domínguez-Morales

Heliyon· April 2024

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