Familial deletion 18p syndrome: case report

by Maranda, Bruno, Lemieux, Nicole, Lemyre, Emmanuelle
Published 2006

Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology: Study of a French-Canadian-Based Cohort

by Fernandez, Isabel, Patey, Natalie, Marchand, Valérie, Birlea, Mirela, Maranda, Bruno, Haddad, Elie, Decaluwe, Hélène, Le Deist, Françoise
Published 2014

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

by Samuels, Mark E, Majewski, Jacek, Alirezaie, Najmeh, Fernandez, Isabel, Casals, Ferran, Patey, Natalie, Decaluwe, Hélène, Gosselin, Isabelle, Haddad, Elie, Hodgkinson, Alan, Idaghdour, Youssef, Marchand, Valerie, Michaud, Jacques L, Rodrigue, Marc-André, Desjardins, Sylvie, Dubois, Stéphane, Le Deist, Francoise, Awadalla, Philip, Raymond, Vincent, Maranda, Bruno
Published 2013

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

by Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J., Keutzer, Joan, Austin, Stephanie, Kishnani, Priya
Published 2016

Retinal lipid and glucose metabolism dictates angiogenesis through lipid sensor Ffar1

by Joyal, Jean-Sébastien, Sun, Ye, Gantner, Marin L., Shao, Zhuo, Evans, Lucy P., Saba, Nicholas, Fredrick, Thomas, Burnim, Samuel, Kim, Jin Sung, Patel, Gauri, Juan, Aimee M., Hurst, Christian G., Hatton, Colman J., Cui, Zhenghao, Pierce, Kerry A., Bherer, Patrick, Aguilar, Edith, Powner, Michael B., Vevis, Kristis, Boisvert, Michel, Fu, Zhongjie, Levy, Emile, Fruttiger, Marcus, Packard, Alan, Rezende, Flavio A., Maranda, Bruno, Sapieha, Przemyslaw, Chen, Jing, Friedlander, Martin, Clish, Clary B., Smith, Lois E.H.
Published 2016