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Page 1
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: schrander jj. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280141
Adducted thumbs: a clinical clue to genetic diagnosis.
Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG. Verhagen JM, et al. Among authors: schrander jj. Eur J Med Genet. 2013 Mar;56(3):153-8. doi: 10.1016/j.ejmg.2012.11.004. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220544
Caudal deficiency sequence in 7q terminal deletion.
Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Am J Med Genet. 1988 Jul;30(3):757-61. doi: 10.1002/ajmg.1320300309. Am J Med Genet. 1988. PMID: 3055986 Review.
Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.
Schrander-Stumpel CT, Sinnema M, van den Hout L, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Wagemans A, Schrander JJ, Curfs LM. Schrander-Stumpel CT, et al. Among authors: schrander jj. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):241-7. doi: 10.1002/ajmg.c.30136. Am J Med Genet C Semin Med Genet. 2007. PMID: 17639594 Review.
33 results