Browsing by Author Stavropoulos, DJ

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Showing results 1 to 10 of 10
TitleAuthor(s)Issue DateViews
 
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
46
 
2014
72
 
2017
5
 
2016
33
 
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
Proceeding/Conference:European Human Genetics Conference 2017
2017
7
 
2015
15
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
80
 
2015
43
 
2012
91
2013
86