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1دورية أكاديمية
المؤلفون: Hoorntje, E.T., Burns, C., Marsili, L., Corden, B., Parikh, V.N., Te Meerman, G.J., Gray, B., Adiyaman, A., Bagnall, R.D., Barge-Schaapveld, D.Q.C.M., van den Berg, M.P., Bootsma, M., Bosman, L.P., Correnti, G., Duflou, J., Eppinga, R.N., Fatkin, D., Fietz, M., Haan, E., Jongbloed, J.D.H.
مصطلحات موضوعية: arrhythmogenic cardiomyopathy, desmoplakin, genetic testing, sudden cardiac death, Humans, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathies, Risk Factors, Female, Male, Desmoplakins, Arrhythmias, Cardiac
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/1154992Test; http://purl.org/au-research/grants/nhmrc/1162929Test; Circulation: Genomic and Precision Medicine, 2022; 16(1):e003672-e003672; https://hdl.handle.net/2440/137901Test; Haan, E. [0000-0002-7310-5124]
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2دورية أكاديمية
المؤلفون: Herkert, J.C. (Johanna), Verhagen, J.M.A. (Judith), Yotti, R. (Raquel), Haghighi, A. (Alireza), Phelan, D.G. (Dean G.), James, M. (Margaret), Brown, N.J. (Natasha J.), Stutterd, C. (Chloe), Macciocca, I. (Ivan), Leong, K.E. (Kai'En), Bulthuis, M.L.C. (Marian L.C.), Bever, Y. (Yolande) van, Slegtenhorst, M.A. (Marjon) van, Boven, L.G. (Ludolf), Roberts, A.E., Agarwal, R. (Radhika), Seidman, J.G. (J.), Lakdawala, N.K. (Neal K.), Fernández-Avilés, F. (Francisco), Burke, M.A. (Michael A.), Pierpont, M.E. (Mary Ella), Braunlin, E. (Elizabeth), Ḉağlayan, A.O. (Ahmet Okay), Barge-Schaapveld, D.Q.C.M. (Daniela), Birnie, E. (Erwin), Osch-Gevers, M. (Lennie) van, Langen, I.M. (Irene) van, Jongbloed, J.D.H. (Jan), Lockhart, P.J. (Paul), Amor, D. (David), Seidman, C. (Christine), Laar, I.M.B.H. (Ingrid) van de
المصدر: American Heart Journal vol. 225, pp. 108-119
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/127495Test; urn:hdl:1765/127495
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3دورية أكاديمية
المؤلفون: Verdonschot, J.A.J. (Job A. J.), Vanhoutte, E.K. (Els), Claes, G. (Godelieve), Helderman-van den Enden, A.T.J.M. (Apollonia), Hoeijmakers, J.G.J. (Janneke), Hellebrekers, D.M.E.I. (Debby), de Haan, A. (Amber), Christiaans, I. (Imke), Lekanne Deprez, R.H., Boen, H.M. (Hanne M.), Van Craenenbroeck, E.M. (Emeline M.), Loeys, B.L. (Bart), Hoedemaekers, Y.M. (Yvonne), Marcelis, C. (Carlo), Kempers, M.J.E. (Marlies), Brusse, E. (Esther), Waning, J. (Jaap) van, Baas, A.F. (Annette F.), Dooijes, D. (Dennis), Asselbergs, F.W. (Folkert W.), Barge-Schaapveld, D.Q.C.M. (Daniela), Koopman, P. (Pieter), Wijngaard, A. (Arthur) van den, Heymans, S. (Stephane), Krapels, I.P.C. (Ingrid), Brunner, H.G.
المصدر: Human Mutation
مصطلحات موضوعية: cardiomyopathy, filamin, FLNC, genotype–phenotype correlation, myopathy
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/126037Test; urn:hdl:1765/126037
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4دورية أكاديمية
المؤلفون: Verheul, L.M., Ree, M.H. van der, Groeneveld, S.A., Mulder, B.A., Christiaans, I., Kapel, G.F.L., Alings, M., Bootsma, M., Barge-Schaapveld, D.Q.C.M., Balt, J.C., Yap, S.C., Krapels, I.P.C., Bekke, R.M.A. ter, Volders, P.G.A., Crabben, S.N. van der, Postema, P.G., Wilde, A.A.M., Dooijes, D., Baas, A.F., Hassink, R.J.
المصدر: EP Europace
مصطلحات موضوعية: Idiopathic ventricular fibrillation, Sudden cardiac arrest, Genetic testing
وصف الملف: application/pdf
العلاقة: https://academic.oup.com/europace/article/25/11/euad336/7423993Test; lumc-id: 188365721; https://hdl.handle.net/1887/3764402Test
الإتاحة: https://doi.org/10.1093/europace/euad336Test
https://hdl.handle.net/1887/3764402Test
https://academic.oup.com/europace/article/25/11/euad336/7423993Test -
5دورية أكاديمية
المؤلفون: Copier, J.S., Bootsma, M., Ng, C.A., Wilde, A.A.M., Bertels, R.A., Bikker, H., Christiaans, I., Crabben, S.N. van der, Hol, J.A., Koopmann, T.T., Knijnenburg, J., Lommerse, A.A.J., Smagt, J.J. van der, Bezzina, C.R., Vandenberg, J.I., Verkerk, A.O., Barge-Schaapveld, D.Q.C.M., Lodder, E.M.
المصدر: Human Molecular Genetics
وصف الملف: application/pdf
العلاقة: https://academic.oup.com/hmg/article/32/7/1072/6765316Test; lumc-id: 185874862; https://hdl.handle.net/1887/3763663Test
الإتاحة: https://doi.org/10.1093/hmg/ddac261Test
https://hdl.handle.net/1887/3763663Test
https://academic.oup.com/hmg/article/32/7/1072/6765316Test -
6دورية أكاديمية
المؤلفون: Bos, T.A., Piers, S.R.D., Wessels, M.W., Houweling, A.C., Bökenkamp, R., Bootsma, M., Bosman, L.P., Evertz, R., Hellebrekers, D.M.E.I., Hoedemaekers, Y.M., Knijnenburg, J., Deprez, R.L., Mil, A.M. van, Riele, A.S.J.M. te, Slegtenhorst, M.A. van, Wilde, A.A.M., Yap, S.C., Dooijes, D., Koopmann, T.T., Tintelen, J.P. van, Barge-Schaapveld, D.Q.C.M., European Reference Network Rare
المصدر: Netherlands Heart Journal
مصطلحات موضوعية: Arrhythmogenic Cardiomyopathy, Plakophilin-2, Founder mutation, Genetics
وصف الملف: application/pdf
العلاقة: https://link.springer.com/article/10.1007/s12471-023-01791-2Test; lumc-id: 186442434; https://hdl.handle.net/1887/3754186Test
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7دورية أكاديمية
المصدر: European Heart Journal: Case Reports
مصطلحات موضوعية: Case report, Congenital heart disease, Fontan circulation, Univentricular heart, Long term complications, Genetic disorder, Noonan spectrum
وصف الملف: application/pdf
العلاقة: https://academic.oup.com/ehjcr/article/7/4/ytad176/7109759Test; lumc-id: 183014600; https://hdl.handle.net/1887/3759930Test
الإتاحة: https://doi.org/10.1093/ehjcr/ytad176Test
https://hdl.handle.net/1887/3759930Test
https://academic.oup.com/ehjcr/article/7/4/ytad176/7109759Test -
8دورية أكاديمية
المؤلفون: Hoorntje, E.T., Burns, C., Marsili, L., Corden, B., Parikh, V.N., Meerman, G.J. te, Gray, B., Adiyaman, A., Bagnall, R.D., Barge-Schaapveld, D.Q.C.M., Berg, M.P. van den, Bootsma, M., Bosman, L.P., Correnti, G., Duflou, J., Eppinga, R.N., Fatkin, D., Fietz, M., Haan, E., Jongbloed, J.D.H., Hauer, A.D., Lam, L., Lint, F.H.M. van, Lota, A., Marcelis, C., McCarthy, H.J., Mil, A.M. van, Oldenburg, R.A., Pachter, N., Planken, R.N., Reuter, C., Semsarian, C., Smagt, J.J. van der, Thompson, T., Vohra, J., Volders, P.G.A., Waning, J.I. van, Whiffin, N., Wijngaard, A. van den, Amin, A.S., Wilde, A.A.M., Woerden, G. van, Yeates, L., Zentner, D., Ashley, E.A., Wheeler, M.T., Ware, J.S., Tintelen, J.P. van, Ingles, J.
المصدر: Circulation: Genomic and Precision Medicine
مصطلحات موضوعية: cardiomyopathies, primary, death, sudden cardiac, desmoplakins, genetic testing
وصف الملف: application/pdf
العلاقة: lumc-id: 186277160; https://hdl.handle.net/1887/3731652Test
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9دورية أكاديمية
المؤلفون: Pham, C., Andrzejczyk, K., Jurgens, S.J., Deprez, R.L., Palm, K.C.A., Vermeer, A.M.C., Nijman, J., Christiaans, I., Barge-Schaapveld, D.Q.C.M., Dessel, P.F.H.M. van, Beekman, L., Choi, S.H., Lubitz, S.A., Skoric-Milosavljevic, D., Bersselaar, L. van den, Jansen, P.R., Copier, J.S., Ellinor, P.T., Wilde, A.A.M., Bezzina, C.R., Lodder, E.M.
المصدر: Circulation: Genomic and Precision Medicine
مصطلحات موضوعية: cardiac arrhythmias, dilated cardiomyopathy, genetics, phosphorylation
وصف الملف: application/pdf
العلاقة: lumc-id: 186276670; https://hdl.handle.net/1887/3731650Test
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10دورية أكاديمية
المؤلفون: Sluijs, P.J. (Pleuntje) van der, Aten, J.A. (Jacob), Barge-Schaapveld, D.Q.C.M. (Daniela), Bijlsma, E.K. (Emilia), Bökenkamp-Gramann, R. (Regina), Donker Kaat, L. (Laura), Doorn, R. (Remco) van, Putte, D.F. (Dietje Fransen) van de, Haeringen, A. (Arie) van, Harkel, A.D.J. (Arend) ten, Hilhorst-Hofstee, Y. (Yvonne), Hoffer, M.J.V. (Mariëtte), Hollander, N.S. (Nicolette) den, Ierland, Y. (Yvette) van, Koopmans, M. (Marije), Kriek, N. (Nadia), Moghadasi, S. (Setareh), Nibbeling, E.A.R. (Esther), Peeters-Scholte, C.M.P.C.D. (Cacha), Potjer, T.P. (Thomas P.), Rij, M.C. (Maartje) van, Ruivenkamp, C.A. (Claudia), Rutten, J.W. (Julie), Steggerda, S.J. (Sylke), Suerink, M. (Manon), Tan, R.N.G.B. (Ratna), van der Tuin, K. (Karin), Visser, R. (Remco), Werf –’t Lam, A.-S. (Anne-Sophie) van der, Williams, M. (Monique), Witlox, R. (Ruben), Santen, G.W.E. (Gijs)
المصدر: Genetics in Medicine
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/112403Test; urn:hdl:1765/112403