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Page 1
Distal angiogenesis: a new concept for lung vascular morphogenesis.
Parera MC, van Dooren M, van Kempen M, de Krijger R, Grosveld F, Tibboel D, Rottier R. Parera MC, et al. Among authors: van kempen m, van dooren m. Am J Physiol Lung Cell Mol Physiol. 2005 Jan;288(1):L141-9. doi: 10.1152/ajplung.00148.2004. Epub 2004 Sep 17. Am J Physiol Lung Cell Mol Physiol. 2005. PMID: 15377499 Free article.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: van kempen mja. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
Fast and accurate protein structure search with Foldseek.
van Kempen M, Kim SS, Tumescheit C, Mirdita M, Lee J, Gilchrist CLM, Söding J, Steinegger M. van Kempen M, et al. Nat Biotechnol. 2024 Feb;42(2):243-246. doi: 10.1038/s41587-023-01773-0. Epub 2023 May 8. Nat Biotechnol. 2024. PMID: 37156916 Free PMC article.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: van kempen m. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
Modifier genes in SCN1A-related epilepsy syndromes.
de Lange IM, Mulder F, van 't Slot R, Sonsma ACM, van Kempen MJA, Nijman IJ, Ernst RF, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: van kempen mja. Mol Genet Genomic Med. 2020 Apr;8(4):e1103. doi: 10.1002/mgg3.1103. Epub 2020 Feb 7. Mol Genet Genomic Med. 2020. PMID: 32032478 Free PMC article.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
de Lange IM, Weuring W, van 't Slot R, Gunning B, Sonsma ACM, McCormack M, de Kovel C, van Gemert LJJM, Mulder F, van Kempen MJA, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: van kempen mja. Mol Genet Genomic Med. 2019 Jul;7(7):e00727. doi: 10.1002/mgg3.727. Epub 2019 May 29. Mol Genet Genomic Med. 2019. PMID: 31144463 Free PMC article.
96 results