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Page 1
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Among authors: storm k. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: storm k. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
Storm K, Moens E, Vits L, De Vlieger H, Delaere G, D'Hollander M, Wuyts W, Biervliet M, Van Schil L, Desager K, Nöthen MM. Storm K, et al. J Cyst Fibros. 2007 Nov 30;6(6):371-5. doi: 10.1016/j.jcf.2006.10.013. Epub 2007 May 3. J Cyst Fibros. 2007. PMID: 17481968 Free article.
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Vits L, Beckers D, Craen M, de Beaufort C, Vanfleteren E, Dahan K, Nollet A, Vanhaverbeke G, Imschoot SV, Bourguignon JP, Beauloye V, Storm K, Massa G, Giri M, Nobels F, De Schepper J, Rooman R, Van den Bruel A, Mathieu C, Wuyts W. Vits L, et al. Among authors: storm k. Clin Genet. 2006 Oct;70(4):355-9. doi: 10.1111/j.1399-0004.2006.00686.x. Clin Genet. 2006. PMID: 16965331 Free article. No abstract available.
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K. De Leeneer K, et al. Among authors: storm k. Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28. Breast Cancer Res Treat. 2012. PMID: 22370629 Free article.
135 results