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Prenat Diagn. 2015 Jul;35(7):656-62. doi: 10.1002/pd.4583. Epub 2015 May 26.
3
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
Prenat Diagn. 2015 Oct;35(10):950-8. doi: 10.1002/pd.4585. Epub 2015 Apr 5.
4
Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.
PLoS One. 2014 Oct 7;9(10):e109173. doi: 10.1371/journal.pone.0109173. eCollection 2014.
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The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.
Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:53-61. doi: 10.1016/j.ejogrb.2014.08.028. Epub 2014 Aug 30.
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Fetal Diagn Ther. 2014;36(4):282-6. doi: 10.1159/000367626. Epub 2014 Sep 12.
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Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy.
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Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
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Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
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