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The transmission of OXPHOS disease and methods to prevent this.
Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: geraedts jp. Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. doi: 10.1093/humupd/dmi042. Epub 2005 Sep 30. Hum Reprod Update. 2006. PMID: 16199488 Review.
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gómez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD. Drüsedau M, et al. Among authors: geraedts jp. Eur J Hum Genet. 2013 Dec;21(12):1361-8. doi: 10.1038/ejhg.2013.50. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531862 Free PMC article.
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. Paulussen AD, et al. Among authors: geraedts j. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280141
Paternal transmission of congenital myotonic dystrophy.
de Die-Smulders CE, Smeets HJ, Loots W, Anten HB, Mirandolle JF, Geraedts JP, Höweler CJ. de Die-Smulders CE, et al. Among authors: geraedts jp. J Med Genet. 1997 Nov;34(11):930-3. doi: 10.1136/jmg.34.11.930. J Med Genet. 1997. PMID: 9391889 Free PMC article.
229 results