1. A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French–Canadian Population. Issue 3 (1st February 2018) Authors: Nada, Dina; Julien, Cédric; Samuels, Mark E.; Moreau, Alain Journal: Spine Issue: Volume 43:Issue 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome. Issue 1 (17th October 2012) Authors: Capo‐Chichi, José‐Mario; Bharti, Sanjay Kumar; Sommers, Joshua A.; Yammine, Tony; Chouery, Eliane; Patry, Lysanne; Rouleau, Guy A.; Samuels, Mark E.; Hamdan, Fadi F.; Michaud, Jacques L.; Brosh Jr, Robert M.; Mégarbane, André; Kibar, Zoha Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 11 (18th October 2014) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffaut, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; FORGE Canada Consortium; Michaud, Jacques; Boles, Richard G.... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 2 (February 2015) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Consortium, FORGE Canada; Michaud, Jacques; Boles, Richard ... Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?. Issue 3 (13th March 2015) Authors: Samuels, Mark E.; Alos, Nathalie; Deal, Cheri L. Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?. Issue 3 (March 2015) Authors: Samuels, Mark E.; Alos, Nathalie; Deal, Cheri L. Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗