Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 1
2012 2
2013 1
2014 2
2015 2
2017 1
2018 2
2022 2
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Snoek R, et al. Among authors: elferink mg. Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363. Nephrol Dial Transplant. 2022. PMID: 33306124
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN. Ramirez-Martinez A, et al. Among authors: elferink mg. J Clin Invest. 2022 Jun 1;132(11):e159002. doi: 10.1172/JCI159002. J Clin Invest. 2022. PMID: 35642635 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.
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
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.
11 results