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Page 1
Intragenic probe used for diagnostics in fragile X families.
Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Verkerk AJ, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6. doi: 10.1002/ajmg.1320430132. Am J Med Genet. 1992. PMID: 1605192
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.
Hoogerwaard EM, van der Wouw PA, Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ, de Visser M. Hoogerwaard EM, et al. Among authors: majoor krakauer df. Neuromuscul Disord. 1999 Jul;9(5):347-51. doi: 10.1016/s0960-8966(99)00018-8. Neuromuscul Disord. 1999. PMID: 10407858
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Among authors: majoor krakauer df. Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594. Am J Med Genet A. 2009. PMID: 19161153
63 results