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Julie Gauthier

Showing results (41-50 of 62) with videos related to

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American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.
Plos Genetics|March 9, 2011
A population genetic approach to mapping neurological disorder genes using deep resequencingRachel A Myers, Ferran Casals, Julie Gauthier, et al.
Human Genetics|March 23, 2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie Gauthier, Tabrez J Siddiqui, Peng Huashan, et al.
Nature Genetics|July 12, 2011
Increased exonic de novo mutation rate in individuals with schizophreniaSimon L Girard, Julie Gauthier, Anne Noreau, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studyFrançois Rousseau, Sylvie Langlois, Jo-Ann Johnson, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Biological Psychiatry|July 22, 2010
De novo truncating mutation in Kinesin 17 associated with schizophreniaJulien Tarabeux, Nathalie Champagne, Edna Brustein, et al.
American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.
Plos Genetics|March 9, 2011
A population genetic approach to mapping neurological disorder genes using deep resequencingRachel A Myers, Ferran Casals, Julie Gauthier, et al.
Human Genetics|March 23, 2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie Gauthier, Tabrez J Siddiqui, Peng Huashan, et al.
Nature Genetics|July 12, 2011
Increased exonic de novo mutation rate in individuals with schizophreniaSimon L Girard, Julie Gauthier, Anne Noreau, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studyFrançois Rousseau, Sylvie Langlois, Jo-Ann Johnson, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Biological Psychiatry|July 22, 2010
De novo truncating mutation in Kinesin 17 associated with schizophreniaJulien Tarabeux, Nathalie Champagne, Edna Brustein, et al.
American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.
Pageof 7