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Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM; ESHG Public and Professional Policy Committee. van El CG, et al. Eur J Hum Genet. 2013 Jun;21(6):580-4. doi: 10.1038/ejhg.2013.46. Eur J Hum Genet. 2013. PMID: 23676617 Free PMC article. No abstract available.
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM; ESHG Public and Professional Policy Committee. van El CG, et al. Eur J Hum Genet. 2013 Jun;21 Suppl 1(Suppl 1):S1-5. Eur J Hum Genet. 2013. PMID: 23819146 Free PMC article. No abstract available.
Effect of comprehensive oncogenetics training interventions for general practitioners, evaluated at multiple performance levels.
Houwink EJ, Muijtjens AM, van Teeffelen SR, Henneman L, Rethans JJ, Jacobi F, van der Jagt L, Stirbu I, van Luijk SJ, Stumpel CT, Meijers-Heijboer HE, van der Vleuten C, Cornel MC, Dinant GJ. Houwink EJ, et al. PLoS One. 2015 Apr 2;10(4):e0122648. doi: 10.1371/journal.pone.0122648. eCollection 2015. PLoS One. 2015. PMID: 25837634 Free PMC article. Clinical Trial.
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
226 results