Search Results - "Khurs, Olga M"
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Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams–Beuren syndrome patients
Published in Mutation research (18-09-2011)“…Williams–Beuren syndrome (WBS) is the chromosomal disorder arising from a hemizygous microdeletion at 7q11.23. The present study was focused on a comparative…”
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Biomarkers for genome instability in some genetic disorders: a pilot study
Published in Biomarkers (01-05-2012)“…Context: The study of genome integrity in some genetic disorders has diagnostic and prognostic importance because of the evident relationship between genome…”
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Journal Article -
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Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome
Published in European journal of medical genetics (01-07-2009)“…Abstract An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular…”
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