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Science (New York, N.Y.)
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September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Cell Genomics
|
February 13, 2023
The female protective effect against autism spectrum disorder
Emilie M Wigdor, Daniel J Weiner, Jakob Grove, et al.
Genome Medicine
|
April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Nature Genetics
|
May 16, 2017
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, et al.
Nature
|
March 26, 2015
Loss of δ-catenin function in severe autism
Tychele N Turner, Kamal Sharma, Edwin C Oh, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Large-scale discovery of neural enhancers for cis-regulation therapies
Troy A McDiarmid, Nicholas F Page, Florence M Chardon, et al.
Biological Psychiatry
|
December 16, 2011
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism
Thomas V Fernandez, Stephan J Sanders, Ilana R Yurkiewicz, et al.
Biological Psychiatry
|
June 11, 2013
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait
Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Biological Psychiatry
|
December 24, 2014
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Page
of 16
Search research articles
Search
Showing results (91-100 of 154) with videos related to
Sort By:
Page
of 16
Science (New York, N.Y.)
|
September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
Cell Genomics
|
February 13, 2023
The female protective effect against autism spectrum disorder
Emilie M Wigdor, Daniel J Weiner, Jakob Grove, et al.
Genome Medicine
|
April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Nature Genetics
|
May 16, 2017
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, et al.
Nature
|
March 26, 2015
Loss of δ-catenin function in severe autism
Tychele N Turner, Kamal Sharma, Edwin C Oh, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Large-scale discovery of neural enhancers for cis-regulation therapies
Troy A McDiarmid, Nicholas F Page, Florence M Chardon, et al.
Biological Psychiatry
|
December 16, 2011
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism
Thomas V Fernandez, Stephan J Sanders, Ilana R Yurkiewicz, et al.
Biological Psychiatry
|
June 11, 2013
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait
Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Biological Psychiatry
|
December 24, 2014
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Page
of 16