Showing results 1 to 3 of 3
Title | Author(s) | Issue Date | |
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2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features Journal:American Journal of Medical Genetics, Part A | 2011 | ||
Global developmental delay and characteristic facial features associated with PACS1 mutation: report of two cases Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia | 2014 | ||
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal:BMC Medical Genomics | 2013 |