Publications by authors named "Mathieu Desmeules"

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Rare diseases load through the study of a regional population.
Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, Mathieu Desmeules

PLoS Genet· October 2025

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Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.
Carol-Ann Fortin, Mélanie Côté-Richer, Karine Truchon, Josianne Leblanc, Annabelle Pratte, Mathieu Desmeules

Genet Med Open· May 2025

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Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Carol-Ann Fortin, Lysanne Girard, Chloé Bonenfant, Josianne Leblanc, Tania Cruz-Marino, Mathieu Desmeules

Front Endocrinol (Lausanne)· May 2022

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