Showing results 34 to 37 of 37
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Title | Author(s) | Issue Date | |
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Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
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 | ||
The first reported case of the dragon gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5Q15-21.1 Proceeding/Conference:30th Annual David W. Smith Workshop | 2009 | ||
Ulnar-Mammary Syndrome: expending the phenotype to include ankyloglossia and cleft lip and palate Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010 | 2010 |