The ongoing dissection of the genetic architecture of autistic spectrum disorder

by Gillis Rob F, Rouleau Guy A
Published 2011-07-01

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

by Rouleau Guy A, Jousserand Guillemette, Belzil Véronique V, Camdessanché Jean-Philippe, Créac'h Christelle, Convers Philippe, Antoine Jean-Christophe
Published 2011-02-01

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

by Marra Marco, Lemyre Emmanuelle, Langlois Sylvie, Lam Wan L, Eydoux Patrice, Delaney Allen, Coe Bradley P, Chénier Sébastien, Chan Susanna, Chai David, Montpetit Alexandre, Tucker Tracy, Qian Hong, Rouleau Guy A, Vincent David, Michaud Jacques L, Friedman Jan M
Published 2011-03-01

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

by Li H Irene, Lemyre Emmanuelle, Langlois Sylvie, Gibson William T, Flibotte Stephane, Delaney Allen D, Chai David, Chan Susanna, Boerkoel Cornelius, Birch Patricia, Baross Agnes, Armstrong Linlea, Arbour Laura, Adam Shelin, Friedman JM, MacLeod Patrick, Mathers Joan, Michaud Jacques L, McGillivray Barbara C, Patel Millan S, Qian Hong, Rouleau Guy A, Van Allen Margot I, Yong Siu-Li, Zahir Farah R, Eydoux Patrice, Marra Marco A
Published 2009-11-01

Caractérisation fonctionnelle chez le poisson zèbre de l'isoforme protéique WNK1/HSN2 mutée dans la neuropathie héréditaire sensitive et autonome de type 2

by Bercier, Valérie
Published 2012

Étude sur le rôle des déséquilibres génomiques dans le Syndrome d’Impatiences Musculaires de l’Éveil

by Girard, Simon L.
Published 2010

Recherche des facteurs génétiques à l’origine de la maladie de Parkinson dans la population canadienne-française du Québec

by Rivière, Jean-Baptiste
Published 2011

Pathogenèse moléculaire de la neuropathie sensitive et motrice héréditaire avec agénésie du corps calleux

by Salin, Adèle
Published 2010

Découverte d'un gène causant une ataxie spastique héréditaire dominante dans la population de Terre-Neuve

by Bourassa, Cynthia
Published 2012

Caractérisation du décalage du cadre de lecture de la protéine ataxine-3

by Therrien, Martine
Published 2012

Finding genetic elements that head to the autistic phenotype

by Gillis, Robert Francis Fraser
Published 2012

Genetics of amyotrophic lateral sclerosis

by Belzil, Véronique Valérie
Published 2012

Étude sur le rôle des mutations de novo dans l’étiologie génétique de la schizophrénie

by Girard, Simon L.
Published 2014

Genetic and molecular investigation of the spinocerebellar ataxias

by Hayes, Sean I. A.
Published 1999

New approaches in human genetic analysis

by Dubé, Marie-Pierre.
Published 1999

Mapping of clouston hidrotic ectodermal dysplasia

by Kibar, Zoha D.
Published 1999

Identification of the gene responsible for peripheral neuropathy associated with agenesis of the corpus callosum

by Howard, Heidi C.
Published 2003