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European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.Cerebellum (London, England)|November 11, 2014
Consensus paper: radiological biomarkers of cerebellar diseasesLeonardo Baldarçara, Stuart Currie, M Hadjivassiliou, et al.American Journal of Human Genetics|January 9, 2008
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersBetul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, et al.Molecular Autism|May 27, 2014
Rare deleterious mutations of the gene EFR3A in autism spectrum disordersAbha R Gupta, Michelle Pirruccello, Feng Cheng, et al.Journal of Autism and Developmental Disorders|March 8, 2021
Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum DisorderEmily Neuhaus, Veronica Youn Kang, Anna Kresse, et al.Autism : the International Journal of Research and Practice|April 8, 2024
Gender, assigned sex at birth, and gender diversity: Windows into diagnostic timing disparities in autismGoldie A McQuaid, Allison B Ratto, Allison Jack, et al.Plos Genetics|January 27, 2015
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or ContactinsJohn D Murdoch, Abha R Gupta, Stephan J Sanders, et al.Molecular Autism|April 11, 2017
Neurogenetic analysis of childhood disintegrative disorderAbha R Gupta, Alexander Westphal, Daniel Y J Yang, et al.Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.Translational Psychiatry|June 4, 2020
Neural responsivity to social rewards in autistic female youthKatherine E Lawrence, Leanna M Hernandez, Jeffrey Eilbott, et al.Pageof 6