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Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Hum Reprod. 2019 Aug 1;34(8):1608-1619. doi: 10.1093/humrep/dez106.
Hum Reprod. 2019.
PMID: 31348829
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.
van Uum CM, Stevens SJ, Dreesen JC, Drüsedau M, Smeets HJ, Hollanders-Crombach B, Die-Smulders CE, Geraedts JP, Engelen JJ, Coonen E.
van Uum CM, et al.
Eur J Hum Genet. 2012 Sep;20(9):938-44. doi: 10.1038/ejhg.2012.27. Epub 2012 Feb 29.
Eur J Hum Genet. 2012.
PMID: 22378284
Free PMC article.
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Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.
Stevens SJ, Smeets EE, Blom E, van Uum CM, Albrechts JC, Herbergs J, Janssen JW, Engelen JJ.
Stevens SJ, et al. Among authors: van uum cm.
Am J Med Genet A. 2009 Oct;149A(10):2226-30. doi: 10.1002/ajmg.a.32967.
Am J Med Genet A. 2009.
PMID: 19725130
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Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.
Engelen JJ, Moog U, Weber J, Haagen AA, van Uum CM, Hamers AJ.
Engelen JJ, et al. Among authors: van uum cm.
Am J Med Genet A. 2003 Jun 15;119A(3):356-9. doi: 10.1002/ajmg.a.10266.
Am J Med Genet A. 2003.
PMID: 12784305
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