Search Results - "Shubina, J."
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51. PRECONCEPTION CARRIER SCREENING FOR MONOGENIC DISORDERS
Published in Reproductive biomedicine online (01-08-2019)“…Up to 2% of newborn children have untreatable monogenic disorder. Preconception carrier screening is performed rarely. If a sperm donor is a carrier of…”
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Detection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testing
Published in Bulletin of RSMU (01-07-2019)“…Timely detection of fetal aneuploidy is an important aspect of clinical practice. At present, analytical techniques involving high-throughput sequencing are on…”
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Gut microbiota of healthy newborns: new diagnostic technologies — new outlook on the development process
Published in Bulletin of RSMU (01-11-2019)“…Currently, there are no criteria allowing to adequately assess composition and volume of the newborns' gut microbiota, which prevents early detection of the…”
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Detection of CFTR mutations in children with cystic fibrosis
Published in Bulletin of RSMU (01-08-2018)Get full text
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Quantification of fetal DNA in the plasma of pregnant women using next generation sequencing of frequent single nucleotide polymorphisms
Published in Bulletin of RSMU (01-01-2018)Get full text
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Transnational corporations and employees' rights protection in European Union law: analysis of legislation
Published in Vestnik Rossiĭskogo universiteta druzhby narodov. Serii͡a︡ I͡U︡ridicheskie nauki (01-06-2008)“…The article is devoted to some aspects of the protection of transnational corporations`employees under the laws of the European Union…”
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