1. 3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern Ontario. Issue 6 (25th October 2016) Authors: Fraser, William D.; Shapiro, Gabriel D.; Audibert, François; Dubois, Lise; Pasquier, Jean‐Charles; Julien, Pierre; Bérard, Anick; Muckle, Gina; Trasler, Jacquetta; Tremblay, Richard E.; Abenhaim, Haim; Welt, Michel; Bédard, Marie‐Josée; Bissonnette, François; Bujold, Emmanuel; Gagnon, Robert; Mic... Journal: Paediatric and perinatal epidemiology Issue: Volume 30:Issue 6(2016:Nov.) Page Start: 623 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 Gain‐of‐Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis. Issue 8 (22nd June 2015) Authors: Aoyagi, Kyota; Rossignol, Elsa; Hamdan, Fadi F.; Mulcahy, Ben; Xie, Lin; Nagamatsu, Shinya; Rouleau, Guy A.; Zhen, Mei; Michaud, Jacques L. Journal: Human mutation Issue: Volume 36:Issue 8(2015:Aug.) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies. Issue 4 (12th February 2018) Authors: Accogli, Andrea; Hamdan, Fadi F.; Poulin, Chantal; Nassif, Christina; Rouleau, Guy A.; Michaud, Jacques L.; Srour, Myriam Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alterations of visual and auditory evoked potentials in fragile X syndrome. (26th May 2014) Authors: Knoth, Inga Sophia; Vannasing, Phetsamone; Major, Philippe; Michaud, Jacques L.; Lippé, Sarah Journal: International journal of developmental neuroscience Issue: Volume 36(2014) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity. Issue 59 (19th March 2017) Authors: Rigoulot, Simon; Knoth, Inga S.; Lafontaine, Marc‐Philippe; Vannasing, Phetsamone; Major, Philippe; Jacquemont, Sébastien; Michaud, Jacques L.; Jerbi, Karim; Lippé, Sarah Journal: International journal of developmental neuroscience Issue: Issue 59(2017:Jun.) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity. Issue 59 (June 2017) Authors: Rigoulot, Simon; Knoth, Inga S.; Lafontaine, Marc-Philippe; Vannasing, Phetsamone; Major, Philippe; Jacquemont, Sébastien; Michaud, Jacques L.; Jerbi, Karim; Lippé, Sarah Journal: International journal of developmental neuroscience Issue: Issue 59(2017:Jun.) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Assessment of burden and segregation profiles of CNVs in patients with epilepsy. Issue 7 (8th June 2022) Authors: Moreau, Claudia; Tremblay, Frédérique; Wolking, Stefan; Girard, Alexandre; Laprise, Catherine; Hamdan, Fadi F.; Michaud, Jacques L.; Minassian, Berge A.; Cossette, Patrick; Girard, Simon L. Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 7(2022) Page Start: 1050 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014) Authors: Lee, Jae‐Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So‐Hee; Brunel‐Guitton, Catherine; Décarie, Jean‐Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boyco... Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗