1. A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome. Issue 7 (27th April 2017) Authors: Lemire, Gabrielle; Gauthier, Julie; Soucy, Jean‐François; Delrue, Marie‐Ange Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1887 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review. Issue 5 (20th January 2016) Authors: Merner, Nancy; Forgeot d'Arc, Baudouin; Bell, Scott C.; Maussion, Gilles; Peng, Huashan; Gauthier, Julie; Crapper, Liam; Hamdan, Fadi F.; Michaud, Jacques L.; Mottron, Laurent; Rouleau, Guy A.; Ernst, Carl Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A full molecular picture of F8 intron 1 inversion created with optical genome mapping. Issue 5 (7th July 2021) Authors: Fahiminiya, Somayyeh; Rivard, Georges‐Etienne; Scott, Patrick; Montpetit, Alexandre; Bacot, François; St‐Louis, Jean; Mitchell, Grant A.; Foulkes, William D.; Soucy, Jean‐Francois; Gauthier, Julie Journal: Haemophilia Issue: Volume 27:Issue 5(2021) Page Start: e638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. (26th June 2017) Authors: Pacheco‐Cuéllar, Guillermo; Gauthier, Julie; Désilets, Valérie; Lachance, Christian; Lemire‐Girard, Marlène; Rypens, Françoise; Le Deist, Françoise; Decaluwe, Hélène; Duval, Michel; Bouron‐Dal Soglio, Dorothée; Kokta, Victor; Haddad, Élie; Campeau, Philippe M Journal: Journal of bone and mineral research Issue: Volume 32:Number 9(2017:Sep.) Page Start: 1853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A prospective surveillance study in haemophilia B patients following a population switch to recombinant factor IX (nonacog gamma). Issue 4 (8th February 2021) Authors: Dubé, Evemie; Merlen, Clémence; Bonnefoy, Arnaud; Gauthier, Julie; Castilloux, Jean‐François; Cloutier, Stéphanie; Demers, Christine; Sabapathy, Christine A.; St‐Louis, Jean; Vézina, Catherine; Warner, Margaret; Rivard, Georges‐Étienne Journal: Haemophilia Issue: Volume 27:Issue 4(2021) Page Start: e530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes. Issue 2 (28th January 2019) Authors: Nava, Tiago; Dubé, Evemie; Gauthier, Julie; Vézina, Catherine; Bonnefoy, Arnaud; Lillicrap, David; Rivard, Georges‐Etienne Journal: Haemophilia Issue: Volume 25:Issue 2(2019) Page Start: e113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. Issue 5 (29th March 2018) Authors: Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, ... Journal: Journal of medical genetics Issue: Volume 55:Issue 5(2018) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Correction of Tetralogy of Fallot Associated With Anomalous Coronary Artery Without Extracardiac Conduit. Issue 3 (May 2020) Authors: Benjaout, Kaoutar; Mitchell, Julia; Gauthier, Julie; Ninet, Jean Journal: World journal for pediatric & congenital heart surgery Issue: Volume 11:Issue 3(2020) Page Start: 343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evaluation of anti‐factor VIII antibodies in haemophilia A subjects switching products following a provincial tender. Issue 1 (11th November 2021) Authors: Dubé, Evemie; Merlen, Clémence; Bonnefoy, Arnaud; Gauthier, Julie; Castilloux, Jean‐François; Charlebois, Janie; Cloutier, Stéphanie; Demers, Christine; Sabapathy, Christine A.; St‐Louis, Jean; Vézina, Catherine; Warner, Margaret; Rivard, Georges‐Étienne Journal: Haemophilia Issue: Volume 28:Issue 1(2022) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of cvSI-3 and evidence for the wide distribution and active evolution of the I84 family of protease inhibitors in mollusks. Issue 62 (March 2017) Authors: Xue, Qinggang; Beguel, Jean-Phillipe; Gauthier, Julie; La Peyre, Jerome Journal: Fish & shellfish immunology Issue: Issue 62(2017) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗