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Julie Gauthier

Showing results (51-60 of 62) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier, Nathalie Champagne, Ronald G Lafrenière, et al.
American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|August 28, 2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla, Julie Gauthier, Rachel A Myers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.
Science Translational Medicine|September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor, Annabel Whibley, Christian R Marshall, et al.
Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophreniaJulie Gauthier, Nathalie Champagne, Ronald G Lafrenière, et al.
American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|August 28, 2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla, Julie Gauthier, Rachel A Myers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathyRené G Feichtinger, Bettina E Mucha, Holger Hengel, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
Plos Genetics|September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsClaire S Leblond, Caroline Nava, Anne Polge, et al.
Science Translational Medicine|September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor, Annabel Whibley, Christian R Marshall, et al.
Nature Genetics|March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsyDarcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Pageof 7