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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: jansen a. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
De novo KCNQ2 mutations in patients with benign neonatal seizures.
Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P. Claes LR, et al. Among authors: jansen a. Neurology. 2004 Dec 14;63(11):2155-8. doi: 10.1212/01.wnl.0000145629.94338.89. Neurology. 2004. PMID: 15596769
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Deprez L, et al. Among authors: jansen a. Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf. Neurology. 2010. PMID: 20876469
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. van Harssel JJ, et al. Among authors: jansen ac. Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334464
Efficacy of pembrolizumab and biomarker analysis in patients with WGS-based intermediate to high tumor mutational load: results from the Drug Rediscovery Protocol.
Geurts BS, Zeverijn LJ, Leek LVM, van Berge Henegouwen JM, Hoes LR, van der Wijngaart H, van der Noort V, van de Haar J, van Ommen-Nijhof A, Kok M, Roepman P, Jansen AML, de Leng WWJ, de Jonge MJA, Hoeben A, van Herpen CML, Westgeest HM, Wessels LFA, Verheul HMW, Gelderblom H, Voest EE. Geurts BS, et al. Among authors: jansen aml. Clin Cancer Res. 2024 Apr 17. doi: 10.1158/1078-0432.CCR-24-0011. Online ahead of print. Clin Cancer Res. 2024. PMID: 38630551
1,667 results