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Seminars in Fetal and Neonatal Medicine, ISSN 1744-165X, 2013, Volume 19, Issue 1, pp. 9 - 14
Journal Article
Journal Article
BJOG: An International Journal of Obstetrics & Gynaecology, ISSN 1470-0328, 01/2017, Volume 124, Issue 1, pp. 32 - 46
Journal Article
Journal of Biotechnology, ISSN 0168-1656, 06/2019, Volume 299, pp. 72 - 78
Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and... 
Non-invasive prenatal testing | Low-coverage massively parallel whole-genome sequencing | Population specific allelic frequencies | READ ALIGNMENT | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Nucleotide sequencing | Multiprocessing | Pregnant women | Analysis | Genomics | DNA sequencing
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 11/2019, Volume 23, Issue 11, pp. 7873 - 7878
The aim of this study was to evaluate the clinical feasibility of non‐invasive prenatal testing (NIPT) to detect foetal copy number variations (CNVs).... 
genetic counselling | prenatal diagnosis | copy number variations | non‐invasive prenatal testing | Plasma | Sequences | Copy number | Genomics | Aneuploidy | Research | Pregnancy | Accuracy | Ultrasonic imaging | Software | Chromosomes | Ultrasound | Chromosome aberrations | Deoxyribonucleic acid--DNA | Anomalies | Short Communications | Short Communication
Journal Article