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Julie Gauthier

Showing results (31-40 of 62) with videos related to

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European Journal of Human Genetics : EJHG|October 29, 2015
De novo variants in sporadic cases of childhood onset schizophreniaAmirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 11, 2008
Novel de novo SHANK3 mutation in autistic patientsJulie Gauthier, Dan Spiegelman, Amélie Piton, et al.
JAMA Neurology|August 21, 2013
SYNE1 mutations in autosomal recessive cerebellar ataxiaAnne Noreau, Cynthia V Bourassa, Anna Szuto, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Biological Psychiatry|January 18, 2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autismFadi F Hamdan, Hussein Daoud, Amélie Piton, et al.
NPJ Genomic Medicine|May 15, 2025
Novel germline and somatic variants in familial and sporadic meningioma genesBouchra Ouled Amar Bencheikh, Allison A Dilliott, Julie Gauthier, et al.
Annals of Neurology|June 27, 2009
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsyFadi F Hamdan, Amélie Piton, Julie Gauthier, et al.
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Human Molecular Genetics|September 20, 2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autismAmélie Piton, Jacques L Michaud, Huashan Peng, et al.
Human Molecular Genetics|March 29, 2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionAnna Fassio, Lysanne Patry, Sonia Congia, et al.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|October 29, 2015
De novo variants in sporadic cases of childhood onset schizophreniaAmirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 11, 2008
Novel de novo SHANK3 mutation in autistic patientsJulie Gauthier, Dan Spiegelman, Amélie Piton, et al.
JAMA Neurology|August 21, 2013
SYNE1 mutations in autosomal recessive cerebellar ataxiaAnne Noreau, Cynthia V Bourassa, Anna Szuto, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Biological Psychiatry|January 18, 2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autismFadi F Hamdan, Hussein Daoud, Amélie Piton, et al.
NPJ Genomic Medicine|May 15, 2025
Novel germline and somatic variants in familial and sporadic meningioma genesBouchra Ouled Amar Bencheikh, Allison A Dilliott, Julie Gauthier, et al.
Annals of Neurology|June 27, 2009
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsyFadi F Hamdan, Amélie Piton, Julie Gauthier, et al.
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Human Molecular Genetics|September 20, 2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autismAmélie Piton, Jacques L Michaud, Huashan Peng, et al.
Human Molecular Genetics|March 29, 2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionAnna Fassio, Lysanne Patry, Sonia Congia, et al.
Pageof 7