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Page 1
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Hiel JA, Weemaes CM, van Engelen BG, Smeets D, Ligtenberg M, van Der Burgt I, van Den Heuvel LP, Cerosaletti KM, Gabreëls FJ, Concannon P. Hiel JA, et al. Among authors: van der burgt i, van engelen bg, van den heuvel lp. J Med Genet. 2001 Jun;38(6):E19. doi: 10.1136/jmg.38.6.e19. J Med Genet. 2001. PMID: 11389166 Free PMC article. No abstract available.
Nijmegen breakage syndrome: a neuropathological study.
Lammens M, Hiel JA, Gabreëls FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Lammens M, et al. Among authors: van engelen bg, van den heuvel lp. Neuropediatrics. 2003 Aug;34(4):189-93. doi: 10.1055/s-2003-42207. Neuropediatrics. 2003. PMID: 12973659
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Groot R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM. Wijmenga C, et al. Among authors: van dongen jj, van der burgt ij, van den heuvel lp. Am J Hum Genet. 1998 Sep;63(3):803-9. doi: 10.1086/302021. Am J Hum Genet. 1998. PMID: 9718351 Free PMC article.
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL. Wijmenga C, et al. Among authors: van dongen jj, van den heuvel lp. Hum Mutat. 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. Hum Mutat. 2000. PMID: 11102980 Review.
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: van engelen bg, van den heuvel lp. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841
393 results