Publications by authors named "N Ronce"

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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, N Ronce

Am J Med Genet A· November 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat

J Med Genet· March 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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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, N Ronce

Mol Psychiatry· January 2016

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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Bertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, Gaëlle Caillaud, Laurence Faivre, Nathalie Ronce

Am J Med Genet A· July 2014

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