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222 results

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Page 1
Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: poot m. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Harakalova M, et al. Among authors: poot m. Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968129 Free PMC article.
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M. Hochstenbach R, et al. Among authors: poot m. Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. doi: 10.1016/j.ejmg.2009.03.015. Epub 2009 Apr 9. Eur J Med Genet. 2009. PMID: 19362174
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M. van Daalen E, et al. Among authors: poot m. Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2. Epub 2011 Aug 12. Neurogenetics. 2011. PMID: 21837366 Free PMC article.
222 results