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Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. Letteboer TG, et al. Among authors: lindhout d. J Med Genet. 2006 Apr;43(4):371-7. doi: 10.1136/jmg.2005.035451. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155196 Free PMC article.
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Letteboer TG, et al. Among authors: lindhout d. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196-5. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517393
Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion.
Pinto D, de Haan GJ, Carton D, Bader A, Witte J, Peters E, van Erp MG, Vandereyken W, Boezeman EH, Boon P, Halley DJ, Koeleman BP, Lindhout D. Pinto D, et al. Among authors: lindhout d. Hum Genet. 2005 Jul;117(2-3):300. Hum Genet. 2005. PMID: 16156031 No abstract available.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
Structural genomic variation in childhood epilepsies with complex phenotypes.
Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, Koeleman BP. Helbig I, et al. Among authors: lindhout d. Eur J Hum Genet. 2014 Jul;22(7):896-901. doi: 10.1038/ejhg.2013.262. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281369 Free PMC article. Clinical Trial.
[Diagnosis of fetal alcohol spectrum disorders].
van Wieringen H, Letteboer TG, Pereira RR, de Ruiter S, Balemans WA, Lindhout D. van Wieringen H, et al. Among authors: lindhout d. Ned Tijdschr Geneeskd. 2010;154:A331. Ned Tijdschr Geneeskd. 2010. PMID: 20858301 Review. Dutch.
243 results