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Year Number of Results
2012 2
2014 2
2015 1
2016 1
2017 1
2018 4
2019 2
2020 1
2021 4
2022 1
2023 3
2024 0

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20 results

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Page 1
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.
Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes.
Nijak A, Simons E, Vandendriessche B, Van de Sande D, Fransen E, Sieliwończyk E, Van Gucht I, Van Craenenbroeck E, Saenen J, Heidbuchel H, Ponsaerts P, Labro AJ, Snyders D, De Vos W, Schepers D, Alaerts M, Loeys BL. Nijak A, et al. Among authors: schepers d. Biol Open. 2022 Feb 15;11(2):bio059016. doi: 10.1242/bio.059016. Epub 2022 Feb 23. Biol Open. 2022. PMID: 35195246 Free PMC article.
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Sieliwonczyk E, Alaerts M, Simons E, Snyders D, Nijak A, Vandendriessche B, Schepers D, Akdeniz D, Van Craenenbroeck E, Knaepen K, Rabaut L, Heidbuchel H, Van Laer L, Saenen J, Labro AJ, Loeys B. Sieliwonczyk E, et al. Among authors: schepers d. Orphanet J Rare Dis. 2023 Jan 31;18(1):23. doi: 10.1186/s13023-023-02618-4. Orphanet J Rare Dis. 2023. PMID: 36721196 Free PMC article.
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
Sieliwonczyk E, Alaerts M, Robyns T, Schepers D, Claes C, Corveleyn A, Willems R, Van Craenenbroeck EM, Simons E, Nijak A, Vandendriessche B, Mortier G, Vrints C, Koopman P, Heidbuchel H, Van Laer L, Saenen J, Loeys B. Sieliwonczyk E, et al. Among authors: schepers d. Europace. 2021 Jun 7;23(6):918-927. doi: 10.1093/europace/euaa305. Europace. 2021. PMID: 33221854
Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool.
Alaerts M, van de Beek G, Luyckx I, Meester J, Schepers D, Verstraeten A, Saenen J, Van Craenenbroeck E, Goovaerts I, Rodrigus I, Laga S, Hendriks J, Goethals S, De Wilde A, Smits E, Jorens P, Huizing M, Van Laer L, Loeys B. Alaerts M, et al. Among authors: schepers d. Front Med (Lausanne). 2019 Sep 6;6:198. doi: 10.3389/fmed.2019.00198. eCollection 2019. Front Med (Lausanne). 2019. PMID: 31555651 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: schepers d. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
20 results