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Novel KRT83 and KRT86 mutations associated with monilethrix.
van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M. van Steensel M, et al. Among authors: vreeburg m. Exp Dermatol. 2015 Mar;24(3):222-4. doi: 10.1111/exd.12624. Exp Dermatol. 2015. PMID: 25557232
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.
Ravindran E, Arashiki N, Becker LL, Takizawa K, Lévy J, Rambaud T, Makridis KL, Goshima Y, Li N, Vreeburg M, Demeer B, Dickmanns A, Stegmann APA, Hu H, Nakamura F, Kaindl AM. Ravindran E, et al. Among authors: vreeburg m. Elife. 2022 Dec 13;11:e80793. doi: 10.7554/eLife.80793. Elife. 2022. PMID: 36511780 Free PMC article.
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
van Steensel MA, Vreeburg M, Peels C, van Ravenswaaij-Arts CM, Bijlsma E, Schrander-Stumpel CT, van Geel M. van Steensel MA, et al. Among authors: vreeburg m. Exp Dermatol. 2006 Sep;15(9):731-4. doi: 10.1111/j.1600-0625.2006.00474.x. Exp Dermatol. 2006. PMID: 16881968
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA. Steijlen PM, et al. Among authors: vreeburg m. Br J Dermatol. 2007 Dec;157(6):1225-9. doi: 10.1111/j.1365-2133.2007.08254.x. Epub 2007 Oct 18. Br J Dermatol. 2007. PMID: 17949453
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH. van Steensel MA, et al. Among authors: vreeburg m. Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473. Am J Med Genet A. 2008. PMID: 18925676
56 results