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Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
van den Heuvel LP, Assink K, Willemsen M, Monnens L. van den Heuvel LP, et al. Hum Genet. 2002 Dec;111(6):544-7. doi: 10.1007/s00439-002-0820-5. Epub 2002 Sep 27. Hum Genet. 2002. PMID: 12436245
Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.
van Engelen BG, Hiel JA, Gabreëls FJ, van den Heuvel LP, van Gent DC, Weemaes CM. van Engelen BG, et al. Among authors: van den heuvel lp, van gent dc. Hum Immunol. 2001 Dec;62(12):1324-7. doi: 10.1016/s0198-8859(01)00345-7. Hum Immunol. 2001. PMID: 11756000
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 den heuvel lp, van der burgt ij, van dongen jj. Am J Hum Genet. 1998 Sep;63(3):803-9. doi: 10.1086/302021. Am J Hum Genet. 1998. PMID: 9718351 Free PMC article.
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Vargas-Poussou R, et al. Among authors: van den heuvel lp. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872. Am J Hum Genet. 1998. PMID: 9585600 Free PMC article.
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425
Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.
Westland R, Hack WW, van der Horst HJ, Uittenbogaard LB, van Hagen JM, van der Valk P, Kamsteeg EJ, van den Heuvel LP, van Wijk JA. Westland R, et al. Among authors: van der horst hj, van hagen jm, van der valk p, van den heuvel lp, van wijk ja. Clin Nephrol. 2012 Dec;78(6):492-6. doi: 10.5414/cn107206. Clin Nephrol. 2012. PMID: 23164417
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 engelen bg, van der burgt i, 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.
DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome.
Deinum J, Steenbergen-Spanjers GC, Jansen M, Boomsma F, Lenders JW, van Ittersum FJ, Hück N, van den Heuvel LP, Wevers RA. Deinum J, et al. Among authors: van ittersum fj, van den heuvel lp. J Med Genet. 2004 Apr;41(4):e38. doi: 10.1136/jmg.2003.009282. J Med Genet. 2004. PMID: 15060114 Free PMC article. No abstract available.
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA. Topaloglu R, et al. Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24. Pediatr Nephrol. 2012. PMID: 21786142 Free PMC article.
Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome.
Westra D, Volokhina EB, van der Molen RG, van der Velden TJ, Jeronimus-Klaasen A, Goertz J, Gracchi V, Dorresteijn EM, Bouts AH, Keijzer-Veen MG, van Wijk JA, Bakker JA, Roos A, van den Heuvel LP, van de Kar NC. Westra D, et al. Among authors: van der molen rg, van der velden tj, van wijk ja, van den heuvel lp, van de kar nc. Pediatr Nephrol. 2017 Feb;32(2):297-309. doi: 10.1007/s00467-016-3496-0. Epub 2016 Oct 7. Pediatr Nephrol. 2017. PMID: 27718086 Free PMC article.
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