Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
Almomani, Rowida, PhD, Verhagen, Judith M.A., MD, Herkert, Johanna C., MD, Brosens, Erwin, PhD, van Spaendonck-Zwarts, Karin Y., MD, PhD, Asimaki, Angeliki, PhD, van der Zwaag, Paul A., MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Bertoli-Avella, Aida M., MD, PhD, Boven, Ludolf G., BSc, van Slegtenhorst, Marjon A., PhD, van der Smagt, Jasper J., MD, van IJcken, Wilfred F.J., PhD, Timmer, Bert, MD, PhD, van Stuijvenberg, Margriet, MD, PhD, Verdijk, Rob M., MD, PhD, Saffitz, Jeffrey E., MD, PhD, du Plessis, Frederik A., MD, Michels, Michelle, MD, PhD, Hofstra, Robert M.W., PhD, Sinke, Richard J., PhD, van Tintelen, J. Peter, MD, PhD, Wessels, Marja W., MD, PhD, Jongbloed, Jan D.H., PhD, van de Laar, Ingrid M.B.H., MD, PhD
Published in Journal of the American College of Cardiology (09.02.2016)
Published in Journal of the American College of Cardiology (09.02.2016)
Get full text
Journal Article
Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies
Sepehrkhouy, Shahrzad, MD, Gho, Johannes M.I.H., MD, van Es, René, MSc, Harakalova, Magdalena, MD, PhD, de Jonge, Nicolaas, MD, PhD, Dooijes, Dennis, PhD, van der Smagt, Jasper J., MD, PhD, Buijsrogge, Marc P., MD, PhD, Hauer, Richard N.W., MD, PhD, Goldschmeding, Roel, MD, PhD, de Weger, Roel A., PhD, Asselbergs, Folkert W., MD, PhD, Vink, Aryan, MD, PhD
Published in Heart rhythm (01.07.2017)
Published in Heart rhythm (01.07.2017)
Get full text
Journal Article
Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation
Visser, Marloes, MD, Dooijes, Dennis, MD, PhD, van der Smagt, Jasper J., MD, PhD, van der Heijden, Jeroen F., MD, PhD, Doevendans, Pieter A., MD, PhD, Loh, Peter, MD, PhD, Asselbergs, Folkert W., MD, PhD, Hassink, Rutger J., MD, PhD
Published in Heart rhythm (01.07.2017)
Published in Heart rhythm (01.07.2017)
Get full text
Journal Article
Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin
Cuperus, Edwin, Koevoets, Rosanne, van der Smagt, Jasper J., Toonstra, Johan, de Graaf, Marlies, Frenkel, Joost, Pasmans, Suzanne G.M.A.
Published in JAAD Case Reports (01.03.2018)
Published in JAAD Case Reports (01.03.2018)
Get full text
Journal Article
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy
Groeneweg, Judith A., MD, Ummels, Amber, Mulder, Marcel, Bikker, Hennie, PhD, van der Smagt, Jasper J., MD, van Mil, Anneke M, Homfray, Tessa, MD, Post, Jan G., MD, Elvan, Arif, MD, PhD, van der Heijden, Jeroen F., MD, PhD, Houweling, Arjan C., MD, PhD, Jongbloed, Jan D.H., PhD, Wilde, Arthur A.M., MD, PhD, van Tintelen, J. Peter, MD, PhD, Hauer, Richard N., MD, PhD, Dooijes, Dennis, PhD
Published in Heart rhythm (01.11.2014)
Published in Heart rhythm (01.11.2014)
Get full text
Journal Article