Constellation, le dépôt institutionnel de l'Université du Québec à Chicoutimi

Article publié dans une revue avec comité d'évaluation

Bchetnia, Mbarka, Bouchard, Luigi, Mathieu, Jean, Campeau, Philippe M, Morin, Charles, Brisson, Diane, Laberge, Anne-Marie, Vézina, Hélène, Gaudet, Daniel et Laprise, Catherine. (2021). Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability. Journal of Medical Genetics, 58, (10), p. 653-665.

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Bchetnia, Mbarka, Lacroix, Jacynthe, Farez, Tarik, Larouche, Miriam, Powell, Julie, McCuaig, Catherine, Dupéré, Audrey, Morin, Charles, Legendre-Guillemin, Valérie et Laprise, Catherine. (2015). Reduction of keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. Experimental dermatology, 25, (3), p. 229-230.

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Thompson Legault, Julie, Strittmatter, Laura, Tardif, Jessica, Sharma, Rohit, Tremblay-Vaillancourt, Vanessa, Aubut, Chantale, Boucher, Gabrielle, Clish, Clary B., Cyr, Denis, Daneault, Caroline, Waters, Paula J., Vachon, Luc, Morin, Charles, Laprise, Catherine, Rioux, John D., Mootha, Vamsi K. et Des Rosiers, Christine. (2015). A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome. Cell Reports, 13, (5), p. 981-989.