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Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
Lantoine J, Brysse A, Dideberg V, Claes K, Symoens S, Coucke W, Benoit V, Rombout S, De Rycke M, Seneca S, Van Laer L, Wuyts W, Corveleyn A, Van Den Bogaert K, Rydlewski C, Wilkin F, Ravoet M, Fastré E, Capron A, Vandevelde NM. Lantoine J, et al. Among authors: van den bogaert k, van laer l. JMIR Med Inform. 2021 Jul 12;9(7):e27980. doi: 10.2196/27980. JMIR Med Inform. 2021. PMID: 34255700 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: van craenenbroeck em, van laer l. Europace. 2021 Jun 7;23(6):918-927. doi: 10.1093/europace/euaa305. Europace. 2021. PMID: 33221854
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Among authors: van laer l. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D, Saenen J, Vandeweyer G, Rotthier A, Alaerts M, Van Craenenbroeck EM, Van Crombruggen J, Mortier G, Wuyts W, Vrints C, Del Favero J, Loeys B, Van Laer L. Proost D, et al. Among authors: van craenenbroeck em, van crombruggen j, van laer l. J Mol Diagn. 2017 May;19(3):445-459. doi: 10.1016/j.jmoldx.2017.01.010. Epub 2017 Mar 22. J Mol Diagn. 2017. PMID: 28341588 Free article.
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A. Nijak A, et al. Among authors: van craenenbroeck e, van laer l. Eur J Med Genet. 2018 Jan;61(1):8-10. doi: 10.1016/j.ejmg.2017.10.003. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024827
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P,… See abstract for full author list ➔ Walsh R, et al. Among authors: van den berg mp, van dooren s, van laer l, van der zwaag pa. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.
Bonneux S, Fransen E, Van Eyken E, Van Laer L, Huyghe J, Van de Heyning P, Voets A, Gerards M, Stassen AP, Hendrickx AT, Smeets HJ, Van Camp G. Bonneux S, et al. Among authors: van eyken e, van laer l, van de heyning p, van camp g. Mitochondrion. 2011 Sep;11(5):729-34. doi: 10.1016/j.mito.2011.05.008. Epub 2011 May 30. Mitochondrion. 2011. PMID: 21645648
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Meester JA, et al. Among authors: van laer l, van hoorick l. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632686 Free PMC article.
172 results