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ELSEA, SARAH
One or more keywords matched the following items that are connected to ELSEA, SARAH
Item TypeName
Academic Article Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
Academic Article Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Academic Article Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
Grant Establishing zebrafish as a model for rai1 gene dosage
Concept Autism Spectrum Disorder
Academic Article Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.
Academic Article Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.
Academic Article An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.
Academic Article Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Academic Article Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Academic Article Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
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  • Autism Spectrum Disorder