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149 results

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Page 1
Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.
Hochstenbach R, Page-Christiaens GC, van Oppen AC, Lichtenbelt KD, van Harssel JJ, Brouwer T, Manten GT, van Zon P, Elferink M, Kusters K, Akkermans O, Ploos van Amstel JK, Schuring-Blom GH. Hochstenbach R, et al. Among authors: elferink m. Case Rep Genet. 2015;2015:926545. doi: 10.1155/2015/926545. Epub 2015 Jun 7. Case Rep Genet. 2015. PMID: 26137330 Free PMC article.
Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.
Johansson LF, de Boer EN, de Weerd HA, van Dijk F, Elferink MG, Schuring-Blom GH, Suijkerbuijk RF, Sinke RJ, Te Meerman GJ, Sijmons RH, Swertz MA, Sikkema-Raddatz B. Johansson LF, et al. Among authors: elferink mg. Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5. Sci Rep. 2017. PMID: 28500333 Free PMC article.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW, Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG, Straver R, Henneman L, Page-Christiaens GC, Sistermans EA. Van Opstal D, et al. Among authors: elferink mg. Genet Med. 2018 Apr;20(5):480-485. doi: 10.1038/gim.2017.132. Epub 2017 Sep 28. Genet Med. 2018. PMID: 29121006 Free PMC article.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: elferink mg. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E. Vrijenhoek T, et al. Among authors: elferink m. Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Eur J Hum Genet. 2015. PMID: 25626705 Free PMC article.
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.
de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A. de Koning HD, et al. Among authors: elferink mg. J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. J Allergy Clin Immunol. 2015. PMID: 25239704 No abstract available.
149 results