A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case

por Larouche, Valérie, Paré, Marie-Frédérique, Grenier, Pierre-Olivier, Wieckowska, Anna, Gagné, Eric, Laframboise, Rachel, Jabado, Nada, De Bie, Isabelle
Publicado 2023

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

por Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
Publicado 2017

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

por Durocher, Francine, Labrie, Yvan, Soucy, Penny, Sinilnikova, Olga, Labuda, Damian, Bessette, Paul, Chiquette, Jocelyne, Laframboise, Rachel, Lépine, Jean, Lespérance, Bernard, Ouellette, Geneviève, Pichette, Roxane, Plante, Marie, Tavtigian, Sean V, Simard, Jacques
Publicado 2006

“One Degree of Separation”: A Mixed-Methods Evaluation of Canadian Mental Health Care User and Provider Experiences With Remote Care During COVID-19

por Ceniti, Amanda K., Abdelmoemin, Wegdan R., Ho, Keith, Kang, Yudi, Placenza, Franca, Laframboise, Rachel, Bhat, Venkat, Foster, Jane A., Frey, Benicio N., Lam, Raymond W., Milev, Roumen, Rotzinger, Susan, Soares, Claudio N., Uher, Rudolf, Kennedy, Sidney H.
Publicado 2022

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

por Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J
Publicado 2014