PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

Autor Trakadis, Yannis J, Buote, Caroline, Therriault, Jean-François, Jacques, Pierre-Étienne, Larochelle, Hugo, Lévesque, Sébastien
Vydáno 2014

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

Autor Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Vydáno v Neurol Genet (2020)