Browsing "Paediatrics & Adolescent Medicine: Conference papers" by Author weksberg, r

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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
38
 
2017
64
 
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations
Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2010
2010
 
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
 
2009
39
 
2013
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
 
2011
126
2011
119
 
Sex specific methylation differences within the promoter of the non-coding RNA on the chromosome Xp11.4 suggest the maternal imprinted pattern
Proceeding/Conference:Annual Meeting of the Organization for the study of Sex Differences, OSDD 2009
2009
96
Social skills impairments in girls with Turner syndrome
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
134
2013