Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"16p11.2 locus"”.
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Single cell transcriptomic analysis of autism associated gene expression in human cerebral cortex development
… (monogenic mutations in ASD) and 30 genes at the 16p11.2 locus (CNV in ASD). We found that distinct sets of ASD risk genes are enriched in neural progenitor cells, excitatory neurons, interneurons and glia cells. Such enrichments were due to cell subtypes within these major cell types having …
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Neurophysiological and behavioural characterisation of a 16p11.2 microdeletion rat model of autism spectrum disorder
Deletion of an approximately 600kb region of the 16p11.2 chromosome is commonly associated with autism spectrum disorder and intellectual disability. The effects of 16p11.2 microdeletion are highly variable and complex, as a result of the diversity of the 30 genes found at this locus. 16p11.2 …