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93 results

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Page 1
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, Deconinck N, Brischoux-Boucher E, De Leener A, Revencu N, Janssens S, Moorgat S, Blaumeiser B, Avela K, Touraine R, Abou Jaoude I, Keymolen K, Saugier-Veber P, Lenaerts T, Abramowicz M, Pirson I. Jacquemin V, et al. Among authors: keymolen k. Hum Genomics. 2023 Mar 2;17(1):16. doi: 10.1186/s40246-023-00464-w. Hum Genomics. 2023. PMID: 36859317 Free PMC article.
Early onset Huntington disease: a neuronal degeneration syndrome.
Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S, Desprechins B, Liebaers I, De Meirleir L. Seneca S, et al. Among authors: keymolen k. Eur J Pediatr. 2004 Dec;163(12):717-21. doi: 10.1007/s00431-004-1537-3. Eur J Pediatr. 2004. PMID: 15338298
Observations on intelligence and behavior in 15 patients with Legius syndrome.
Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E. Denayer E, et al. Among authors: keymolen k. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):123-8. doi: 10.1002/ajmg.c.30297. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495177 Free PMC article.
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.
Vergauwen E, Vanbinst AM, Brussaard C, Janssens P, De Clerck D, Van Lint M, Houtman AC, Michel O, Keymolen K, Lefevere B, Bohler S, Michielsen D, Jansen AC, Van Velthoven V, Gläsker S. Vergauwen E, et al. Among authors: keymolen k. Hered Cancer Clin Pract. 2018 Jan 5;16:2. doi: 10.1186/s13053-017-0084-7. eCollection 2018. Hered Cancer Clin Pract. 2018. PMID: 29312473 Free PMC article.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Hardies K, et al. Among authors: keymolen k. Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19. Brain. 2016. PMID: 27435091 Free PMC article.
Pregnancy outcome in carriers of Robertsonian translocations.
Keymolen K, Van Berkel K, Vorsselmans A, Staessen C, Liebaers I. Keymolen K, et al. Am J Med Genet A. 2011 Oct;155A(10):2381-5. doi: 10.1002/ajmg.a.33941. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910218
93 results