Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"Maternal DNA"”.
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Next Generation Sequencing nell'analisi del DNA fetale da plasma materno per la diagnosi prenatale non invasiva di malattie genetiche
… risk of fetal mortality. The discovery of fetal DNA in maternal plasma had opened new opportunities for non invasive diagnosis and to date, cffDNA( cell-free fetal DNA) is considered the ideal target to conduct a noninvasive diagnosis (NIPD). Simultaneously, the large develop of next generation …
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Mutation analysis at the lipoprotein lipase gene locus in two South African kindreds
… activity (38% of normal) in post-heparin plasma. DNA studies showed JJ to be a compound heterozygote for two point mutations in the LPL gene, these being, the I194T and C418Y substitutions, which occur in exons 5 and 9, respectively. Several mutation detection systems were set up as part of the …
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Cell-free fetal DNA (cffDNA) enrichment for non-invasive prenatal testing (NIPT): a comparison of molecular techniques
… management can be provided to maintain fetal and maternal well-being. Currently, invasive testing is used for definitive diagnosis of fetal aneuploidy, which is associated with a 1% risk of iatrogenic fetal loss. Developing non-invasive prenatal testing (NIPT) is a key area of research and methods …