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Del Gaudio, Daniela
One or more keywords matched the following items that are connected to
Del Gaudio, Daniela
Item Type
Name
Concept
DNA Copy Number Variations
Academic Article
Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Academic Article
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Academic Article
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Academic Article
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Search Criteria
DNA Copy Number Variations