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Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA. van der Smagt JJ, et al. Among authors: hennekam fa. Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. Cardiology. 2012. PMID: 23147395
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Mul K, Schouten MI, van der Looij E, Dooijes D, Hennekam FAM, Notermans NC, Praamstra P, van Gaalen J, Kamsteeg EJ, Verbeek NE, van de Warrenburg BPC. Mul K, et al. Among authors: hennekam fam. Parkinsonism Relat Disord. 2020 Nov;80:98-101. doi: 10.1016/j.parkreldis.2020.09.016. Epub 2020 Sep 12. Parkinsonism Relat Disord. 2020. PMID: 32979786 Free article.
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ. Verbeek DS, et al. Among authors: hennekam fa. Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841389
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: hennekam fa. 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
Angelman syndrome in an inbred family.
Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: hennekam rc, hennekam fa. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067 Free article.
14 results