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

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Among authors: stemkens d. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 Free PMC article.
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA. van der Velde KJ, et al. Among authors: stemkens d. Sci Data. 2022 Apr 13;9(1):169. doi: 10.1038/s41597-022-01265-x. Sci Data. 2022. PMID: 35418585 Free PMC article.
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium; van Balkom IDC. van Eeghen AM, et al. Among authors: stemkens d. Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30. Eur J Med Genet. 2023. PMID: 37003574 Free article.
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Böhm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J. Koutsopoulos OS, et al. Among authors: stemkens d. Eur J Hum Genet. 2013 Jun;21(6):637-42. doi: 10.1038/ejhg.2012.226. Epub 2012 Oct 24. Eur J Hum Genet. 2013. PMID: 23092955 Free PMC article.
[The Dutch guideline 'Renal cell carcinoma'].
Osanto S, Bex A, Hulsbergen-van de Kaa CA, Soetekouw PM, Stemkens D. Osanto S, et al. Among authors: stemkens d. Ned Tijdschr Geneeskd. 2012;156(5):A4462. Ned Tijdschr Geneeskd. 2012. PMID: 22296904 Review. Dutch.