Showing results 12 to 15 of 15
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Title | Author(s) | Issue Date | |
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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal:European Journal of Medical Genetics | 2011 | ||
Role of epigenetic dysregulation in neurodevelopmental syndromes: lessons from KDM5C mutations Proceeding/Conference:ICHG-ASHG 2011 Joint Meeting | 2011 | ||
Social skills impairments in girls with Turner syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 | ||
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 |