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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: van der smagt jj. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events.
Chaldoupi SM, Soedamah-Muthu SS, Regieli J, Werf Cv, Nelen M, van der Smagt JJ, Algra A, Hauer RN, Doevendans PA, Loh P. Chaldoupi SM, et al. Among authors: van der smagt jj. Eur J Cardiovasc Prev Rehabil. 2009 Oct;16(5):616-20. doi: 10.1097/HJR.0b013e32832da03a. Eur J Cardiovasc Prev Rehabil. 2009. PMID: 19494781
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA, van Spaendonck-Zwarts KY, Tanck MWT, van Tintelen JP, Christiaans I, van der Smagt J, Vermeer A, Bos JM, Moss AJ, Swan H, Priori SG, Rydberg A, Tfelt-Hansen J, Ackerman MJ, Olivotto I, Charron P, Gimeno JR, van den Berg M, Wilde AAM, Pinto YM. Jansweijer JA, et al. Open Heart. 2019 May 28;6(1):e000929. doi: 10.1136/openhrt-2018-000929. eCollection 2019. Open Heart. 2019. PMID: 31245010 Free PMC article.
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM, Jansen SMA, Alsters SIM, Post MC, van der Smagt JJ, Handoko-De Man FS, van Tintelen JP, Gille H, Christiaans I, Vonk Noordegraaf A, Bogaard H, Houweling AC. van den Heuvel LM, et al. Among authors: van der smagt jj, van tintelen jp. Genes (Basel). 2020 Oct 13;11(10):1191. doi: 10.3390/genes11101191. Genes (Basel). 2020. PMID: 33066286 Free PMC article.
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
The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update.
Bosman LP, Verstraelen TE, van Lint FHM, Cox MGPJ, Groeneweg JA, Mast TP, van der Zwaag PA, Volders PGA, Evertz R, Wong L, de Groot NMS, Zeppenfeld K, van der Heijden JF, van den Berg MP, Wilde AAM, Asselbergs FW, Hauer RNW, Te Riele ASJM, van Tintelen JP; Netherlands ACM Registry. Bosman LP, et al. Neth Heart J. 2019 Oct;27(10):480-486. doi: 10.1007/s12471-019-1270-1. Neth Heart J. 2019. PMID: 30997596 Free PMC article.
98 results