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103 results

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Page 1
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: van der smagt j. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Cox MG, van der Smagt JJ, Wilde AA, Wiesfeld AC, Atsma DE, Nelen MR, Rodriguez LM, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN. Cox MG, et al. Among authors: van der smagt jj, van tintelen jp. Circ Arrhythm Electrophysiol. 2009 Oct;2(5):524-30. doi: 10.1161/CIRCEP.108.832519. Epub 2009 Jul 7. Circ Arrhythm Electrophysiol. 2009. PMID: 19843920
Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia.
Noordermeer T, van Asten I, Schutgens REG, Lakerveld AJ, Koekman CA, Hage KY, Sebastian SAE, Huisman A, van den Heuvel DJ, Gerritsen HC, Korporaal SJA, Bierings M, van der Smagt JJ, van Gijn ME, Urbanus RT. Noordermeer T, et al. Among authors: van asten i, van den heuvel dj, van gijn me, van der smagt jj. Blood Adv. 2022 Jun 14;6(11):3347-3351. doi: 10.1182/bloodadvances.2021006830. Blood Adv. 2022. PMID: 35255501 Free PMC article. No abstract available.
Familial occurrence of isolated non-compaction cardiomyopathy.
Lorsheyd A, Cramer MJ, Velthuis BK, Vonken EJ, van der Smagt J, van Tintelen P, Hauer RN. Lorsheyd A, et al. Among authors: van der smagt j, van tintelen p. Eur J Heart Fail. 2006 Dec;8(8):826-31. doi: 10.1016/j.ejheart.2006.02.014. Epub 2006 May 19. Eur J Heart Fail. 2006. PMID: 16713736 Free article.
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN. Cox MG, et al. Among authors: van langen im, van der smagt jj, van der zwaag pa, van den wijngaard a, van tintelen jp, van der werf c. Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23. Circulation. 2011. PMID: 21606396
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA. van der Smagt JJ, et al. Among authors: van langen im, van der zwaag pa, van tintelen jp. Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. Cardiology. 2012. PMID: 23147395
Molecular genetic analysis of six Dutch families with atrial fibrillation.
Entius MM, Groenewegen A, Pronk A, van der Smagt JJ, Loh P, Hauer RN, Derksen R, van Gelder IC, Lok DJ, Doevendans PA. Entius MM, et al. Among authors: van gelder ic, van der smagt jj. Neth Heart J. 2005 Aug;13(7-8):269-273. Neth Heart J. 2005. PMID: 25696507 Free PMC article.
Large inv dup(15) chromosome in two generations.
Van Der Smagt JJ, Giltay JC, De Ne JJ, Slabbers GH. Van Der Smagt JJ, et al. J Med Genet. 1996 Mar;33(3):261-2. doi: 10.1136/jmg.33.3.261-a. J Med Genet. 1996. PMID: 8728709 Free PMC article. No abstract available.
103 results