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Raphael Bernier

Showing results (91-100 of 101) with videos related to

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Archives of General Psychiatry|November 9, 2011
A multisite study of the clinical diagnosis of different autism spectrum disordersCatherine Lord, Eva Petkova, Vanessa Hus, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, et al.
The American Journal of Psychiatry|January 1, 2021
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number VariantsSamuel J R A Chawner, Joanne L Doherty, Richard J L Anney, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Nature|May 1, 2009
Common genetic variants on 5p14.1 associate with autism spectrum disordersKai Wang, Haitao Zhang, Deqiong Ma, et al.
Nature|May 1, 2009
Autism genome-wide copy number variation reveals ubiquitin and neuronal genesJoseph T Glessner, Kai Wang, Guiqing Cai, et al.
Pageof 11

Showing results (91-100 of 101) with videos related to

Sort By:
Pageof 11
Archives of General Psychiatry|November 9, 2011
A multisite study of the clinical diagnosis of different autism spectrum disordersCatherine Lord, Eva Petkova, Vanessa Hus, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, et al.
The American Journal of Psychiatry|January 1, 2021
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number VariantsSamuel J R A Chawner, Joanne L Doherty, Richard J L Anney, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Nature|May 1, 2009
Common genetic variants on 5p14.1 associate with autism spectrum disordersKai Wang, Haitao Zhang, Deqiong Ma, et al.
Nature|May 1, 2009
Autism genome-wide copy number variation reveals ubiquitin and neuronal genesJoseph T Glessner, Kai Wang, Guiqing Cai, et al.
Pageof 11