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Natural history and early diagnosis of LAD-1/variant syndrome.
Kuijpers TW, van Bruggen R, Kamerbeek N, Tool AT, Hicsonmez G, Gurgey A, Karow A, Verhoeven AJ, Seeger K, Sanal O, Niemeyer C, Roos D. Kuijpers TW, et al. Among authors: sanal o. Blood. 2007 Apr 15;109(8):3529-37. doi: 10.1182/blood-2006-05-021402. Epub 2006 Dec 21. Blood. 2007. PMID: 17185466 Free article. Clinical Trial.
LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. Kuijpers TW, et al. Among authors: sanal o. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: sanal o. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Mutations of chronic granulomatous disease in Turkish families.
Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D. Köker MY, et al. Among authors: sanal o. Eur J Clin Invest. 2007 Jul;37(7):589-95. doi: 10.1111/j.1365-2362.2007.01828.x. Eur J Clin Invest. 2007. PMID: 17576211
211 results