1. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. Issue 2 (21st December 2015) Authors: Sasarman, Florin; Maftei, Catalina; Campeau, Philippe M.; Brunel‐Guitton, Catherine; Mitchell, Grant A.; Allard, Pierre Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 2(2016) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
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. MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition. (4th December 2015) Authors: Maftei, Catalina; Laberge, Anne-Marie; Maranda, Bruno; Mitchell, Grant; Nizard, Sonia; Tihy, Frédérique; Lemyre, Emmanuelle 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) ↗