Publications by authors named "Caroline Bosson"

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Variations in the TRPV1 gene are associated to exertional heat stroke.
Caroline Bosson, John Rendu, Laurent Pelletier, Amandine Abriat, Amandine Chatagnon

J Sci Med Sport· November 2020

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haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Caroline Bosson

J Med Genet· July 2017

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Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Caroline Bosson

Genet Med· June 2017

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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Andreea M Seferian, Edoardo Malfatti, Caroline Bosson, Laurent Pelletier, Jessica Taytard

Neuromuscul Disord· October 2016

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[Development and analytical validation according COFRAC recommendations of pyruvate and ketone body assay on open automated analyser].
Lysiane Boulet, Laetitia Van Noolen, Caroline Bosson, Patrice Faure, Christelle Corne

Ann Biol Clin (Paris)· May 2016

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Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
Caroline Bosson, Françoise Devillard, Véronique Satre, Klaus Dieterich, Pierre F Ray

Am J Med Genet A· February 2016

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13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.
Brice Poreau, Stéphanie Lin, Caroline Bosson, Klaus Dieterich, Véronique Satre

Eur J Med Genet· October 2015

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