Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | |
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2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia | 2014 | ||
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 | ||
A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation (DNAm) targeting CGs in regulatory regions of key developmental genes Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 |