1. "One Degree of Separation": A Mixed-Methods Evaluation of Canadian Mental Health Care User and Provider Experiences With Remote Care During COVID-19. (September 2022) Authors: 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. Journal: Canadian journal of psychiatry = Issue: Volume 67:Number 9(2022) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. (July 2019) Authors: Poulin, Marc-Antoine; Laframboise, Rachel; Blouin, Marie-Julie Journal: International journal of pediatric otorhinolaryngology Issue: Volume 122(2019:Jul.) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation. Issue 12 (1st October 2011) Authors: Gekas, Jean; Vallée, Maud; Castonguay, Lysanne; Laframboise, Rachel; Maranda, Bruno; Piedboeuf, Bruno; Rousseau, François Journal: Journal of medical genetics Issue: Volume 48:Issue 12(2011) Page Start: 851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Issue 1 (11th February 2019) Authors: Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Effectiveness of Risk-Reducing Salpingo-Oophorectomy in Preventing Ovarian Cancer in a High-Risk French Canadian Population. Issue 6 (1st July 2012) Authors: Bacha, Omar Moreira; Gregoire, Jean; Grondin, Katherine; Edelweiss, Maria Isabel; Laframboise, Rachel; Simard, Jacques; Plante, Marie Journal: International journal of gynecological cancer Issue: Volume 22:Issue 6(2012) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. Issue 2 (11th August 2006) Authors: Simard, Jacques; Dumont, Martine; Moisan, Anne-Marie; Gaborieau, Valérie; Vézina, Hélène; Durocher, Francine; Chiquette, Jocelyne; Plante, Marie; Avard, Denise; Bessette, Paul; Brousseau, Claire; Dorval, Michel; Godard, Béatrice; Houde, Louis; Joly, Yann; Lajoie, Marie-Andrée; Leblanc, Gilles; Lé... Other Names: group-author. Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. Issue 4 (22nd November 2016) Authors: Yang, Hao; Al-Hertani, Walla; Cyr, Denis; Laframboise, Rachel; Parizeault, Guy; Wang, Shu Pei; Rossignol, Francis; Berthier, Marie-Thérèse; Giguère, Yves; Waters, Paula J; Mitchell, Grant A Other Names: author non-byline.; Alvarez Fernando author non-byline.; Brunel-Guitton Catherine author non-byline.; Buhas Daniela author non-byline.; Dubois Josée author non-byline.; Gosselin Martyne author non-byline.; Halac Ugur author non-byline.; Maranda Bruno author non-byline.; Mitchell John author non-... Journal: Journal of medical genetics Issue: Volume 54:Issue 4(2017) Page Start: 241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Issue 3 (25th January 2011) Authors: Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A Journal: Journal of medical genetics Issue: Volume 48:Issue 3(2011) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl. (4th December 2015) Authors: Léveillé, France; Mathonnet, Géraldine; Laframboise, Rachel; Lemyre, Emmanuelle; Nizard, Sonia; Tihy, Frédérique Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018) Authors: Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia... Journal: Journal of human genetics Issue: Volume 63:Issue 3(2018) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗