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Page 1
Fetal and neonatal neurogenetics.
Jansen AC, Keymolen K. Jansen AC, et al. Among authors: keymolen k. Handb Clin Neurol. 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. Handb Clin Neurol. 2019. PMID: 31324307 Review.
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.
De Bruyn C, Vanderhasselt T, Tanyalçin I, Keymolen K, Van Rompaey KL, De Meirleir L, Jansen AC. De Bruyn C, et al. Among authors: keymolen k. Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6. Eur J Paediatr Neurol. 2014. PMID: 24388699 Review.
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.
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.
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease.
Vanbinst AM, Brussaard C, Vergauwen E, Van Velthoven V, Kuijpers R, Michel O, Foulon I, Jansen AC, Lefevere B, Bohler S, Keymolen K, de Mey J, Michielsen D, Andreescu CE, Gläsker S. Vanbinst AM, et al. Among authors: keymolen k. Hered Cancer Clin Pract. 2019 Jul 29;17:22. doi: 10.1186/s13053-019-0121-9. eCollection 2019. Hered Cancer Clin Pract. 2019. PMID: 31384339 Free PMC article.
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K. Brock S, et al. Among authors: keymolen k. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571897 Free PMC article.
93 results