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Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM. de Heer IM, et al. Among authors: van den ouweland am. Plast Reconstr Surg. 2005 Jun;115(7):1894-902; discussion 1903-5. doi: 10.1097/01.prs.0000165278.72168.51. Plast Reconstr Surg. 2005. PMID: 15923834
Trigonocephaly in Muenke syndrome.
van der Meulen J, van den Ouweland A, Hoogeboom J. van der Meulen J, et al. Am J Med Genet A. 2006 Nov 15;140(22):2493-4. doi: 10.1002/ajmg.a.31460. Am J Med Genet A. 2006. PMID: 17036334
Complete FXN deletion in a patient with Friedreich's ataxia.
van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ. van den Ouweland AM, et al. Among authors: van minkelen r. Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12. Genet Test Mol Biomarkers. 2012. PMID: 22691228
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M, Brouwer RW, Kockx CE, van Veghel-Plandsoen M, Withagen-Hermans C, Prins-Bakker L, Hoogeveen-Westerveld M, Mrsic A, van den Berg MM, Koopmans AE, de Wit MC, Jansen FE, Maat-Kievit AJ, van den Ouweland A, Halley D, de Klein A, van IJcken WF. Nellist M, et al. BMC Med Genet. 2015 Feb 25;16:10. doi: 10.1186/s12881-015-0155-4. BMC Med Genet. 2015. PMID: 25927202 Free PMC article.
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO. Rannan-Eliya SV, et al. Among authors: van den ouweland am. Hum Genet. 2004 Aug;115(3):200-7. doi: 10.1007/s00439-004-1151-5. Epub 2004 Jul 7. Hum Genet. 2004. PMID: 15241680
278 results