Daniela Del Gaudio to DNA Copy Number Variations
This is a "connection" page, showing publications Daniela Del Gaudio has written about DNA Copy Number Variations.
Connection Strength
1.068
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.
Score: 0.635
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 02; 22(2):336-344.
Score: 0.142
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
Score: 0.126
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71.
Score: 0.087
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.077