1. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. Issue 1 (25th July 2015) Authors: Khangura, Sara D.; Tingley, Kylie; Chakraborty, Pranesh; Coyle, Doug; Kronick, Jonathan B.; Laberge, Anne‐Marie; Little, Julian; Miller, Fiona A; Mitchell, John J.; Prasad, Chitra; Siddiq, Shabnaz; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Wil... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean†. (12th May 2017) Authors: Tardif, Jessica; Pratte, Annabelle; Laberge, Anne‐Marie Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature. (19th November 2014) Authors: Maftei, Catalina; Rypens, Françoise; Thiffault, Isabelle; Dubé, Johanne; Laberge, Anne‐Marie; Lemyre, Emmanuelle Journal: Prenatal diagnosis Issue: Volume 35:Number 3(2015:Mar.) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature. (19th November 2014) Authors: Maftei, Catalina; Rypens, Françoise; Thiffault, Isabelle; Dubé, Johanne; Laberge, Anne‐Marie; Lemyre, Emmanuelle Journal: Prenatal diagnosis Issue: Volume 35:Number 3(2015:Mar.) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Issue 3 (16th January 2019) Authors: Alkhunaizi, Ebba; Shuster, Shirley; Shannon, Patrick; Siu, Victoria Mok; Darilek, Sandra; Mohila, Carrie A; Boissel, Sarah; Ellezam, Benjamin; Fallet‐Bianco, Catherine; Laberge, Anne‐Marie; Zandberg, Julianne; Injeyan, Marie; Hazrati, Lili‐Naz; Hamdan, Fadi; Chitayat, David Journal: American journal of medical genetics Issue: Volume 179:Issue 3(2019) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Metabolically healthy obesity in children enrolled in the CANadian Pediatric Weight management Registry (CANPWR): An exploratory secondary analysis of baseline data. Issue 1 (7th October 2021) Authors: Damanhoury, Samah; Morrison, Katherine M.; Mian, Rajibul; McPhee, Patrick G.; Kozyrskyj, Anita L.; Newton, Amanda S.; Buchholz, Annick; Chanoine, Jean‐Pierre; Hamilton, Jill; Ho, Josephine; Laberge, Anne‐Marie; Legault, Laurent; Thabane, Lehana; Tremblay, Mark S.; Zenlea, Ian; Ball, Geoff D. C. Journal: Clinical obesity Issue: Volume 12:Issue 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders. (24th January 2018) Authors: Tremblay, Isabelle; Laberge, Anne‐Marie; Cousineau, Dominique; Carmant, Lionel; Rowan, Anita; Janvier, Annie Journal: Acta pædiatrica Issue: Volume 107:Number 5(2018) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. Issue 4 (27th December 2019) Authors: Lemire, Gabrielle T.; Beauregard‐Lacroix, Éliane; Campeau, Philippe M.; Parent, Stefan; Roy‐Beaudry, Marjolaine; Soglio, Dorothée Dal; Grignon, Andrée; Rypens, Françoise; Wavrant, Sandrine; Laberge, Anne‐Marie; Delrue, Marie‐Ange Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗