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Differential gene expression of the intermediate and outer interzone layers of developing articular cartilage in murine embryos.
Jenner F, IJpma A, Cleary M, Heijsman D, Narcisi R, van der Spek PJ, Kremer A, van Weeren R, Brama P, van Osch GJ. Jenner F, et al. Among authors: van osch gj, van der spek pj, van weeren r. Stem Cells Dev. 2014 Aug 15;23(16):1883-98. doi: 10.1089/scd.2013.0235. Epub 2014 Jun 16. Stem Cells Dev. 2014. PMID: 24738827 Free PMC article.
A distinct epigenetic signature at targets of a leukemia protein.
Rossetti S, Hoogeveen AT, Liang P, Stanciu C, van der Spek P, Sacchi N. Rossetti S, et al. Among authors: van der spek p. BMC Genomics. 2007 Feb 1;8:38. doi: 10.1186/1471-2164-8-38. BMC Genomics. 2007. PMID: 17266773 Free PMC article.
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ. Stubbs A, et al. J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19. J Clin Bioinforma. 2012. PMID: 23164068 Free PMC article.
A novel mutation in FGFR2.
Goos JA, van den Ouweland AM, Swagemakers SM, Verkerk AJ, Hoogeboom AJ, van Veelen ML, Mathijssen IM, van der Spek PJ. Goos JA, et al. Am J Med Genet A. 2015 Jan;167A(1):123-7. doi: 10.1002/ajmg.a.36827. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425289
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM. Goos JA, et al. Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2. Hum Mutat. 2016. PMID: 27158814 Free PMC article.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO. Miller KA, et al. Among authors: van der spek pj. J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24. J Med Genet. 2017. PMID: 27884935 Free PMC article.
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Vossen ARJV, van Straalen KR, Swagemakers SMA, de Klein JEMM, Stubbs AP, Venter DJ, van der Zee HH, van der Spek PJ, Prens EP. Vossen ARJV, et al. Among authors: van straalen kr, van der spek pj, van der zee hh. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2353-2361. doi: 10.1111/jdv.16310. Epub 2020 Mar 12. J Eur Acad Dermatol Venereol. 2020. PMID: 32078194 Free PMC article.
281 results