Showing results 15 to 18 of 18
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics | 2018 | 79 | ||
Rare SUZ12 variants commonly cause an overgrowth phenotype Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2019 | 24 | ||
Social skills impairments in girls with Turner syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 | 134 | ||
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 |