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1دورية أكاديمية
المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L
المصدر: Biological psychiatry. 85(4):287-297
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Kerkhof, J, Rastin, C, Levy, MA, Relator, R, McConkey, H, Demain, L, Dominguez-Garrido, E, Kaat, LD, Houge, SD, DuPont, BR, Fee, T, Gokhale, D, Haukanes, BI, Henneman, P, Hilton, BA, Louie, RJ, Motazacker, MM, Rzasa, J, Plomp, A, van der Laan, L, van der Smagt, J, Walden, KK, Banka, S, Mannens, M, Skinner, SA, Friez, MJ, Tedder, ML, Alders, M, Sadikovic, B
المصدر: Kerkhof , J , Rastin , C , Levy , MA , Relator , R , McConkey , H , Demain , L , Dominguez-Garrido , E , Kaat , LD , Houge , SD , DuPont , BR , Fee , T , Gokhale , D , Haukanes , BI , Henneman , P , Hilton , BA , Louie , RJ , Motazacker , MM , Rzasa , J , Plomp , A , van der Laan , L , van der Smagt , J , Walden , KK , Banka , S , Mannens , M ....
مصطلحات موضوعية: DNA methylation, EpiSign, Episignature, Molecular diagnostics, VUS classi fi cation
الإتاحة: https://doi.org/10.1016Test/j.gim.2024.101075
https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001204147500001&DestLinkType=FullRecord&DestApp=WOS_CPLTest -
3دورية أكاديمية
المؤلفون: Melland, H, Bumbak, F, Kolesnik-Taylor, A, Ng-Cordell, E, John, A, Constantinou, P, Joss, S, Larsen, M, Fagerberg, C, Laulund, LW, Thies, J, Emslie, F, Willemsen, M, Kleefstra, T, Pfundt, R, Barrick, R, Chang, R, Loong, L, Alfadhel, M, van der Smagt, J, Nizon, M, Kurian, MA, Scott, DJ, Ziarek, JJ, Gordon, SL, Baker, K
العلاقة: NHMRC/2003710; pii: S1098-3600(21)05421-6; Melland, H., Bumbak, F., Kolesnik-Taylor, A., Ng-Cordell, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Laulund, L. W., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M. ,. Baker, K. (2022). Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. GENETICS IN MEDICINE, 24 (4), pp.880-893. https://doi.org/10.1016Test/j.gim.2021.12.002.; http://hdl.handle.net/11343/301862Test
الإتاحة: https://doi.org/10.1016Test/j.gim.2021.12.002
http://hdl.handle.net/11343/301862Test -
4دورية أكاديمية
المؤلفون: Stafford, F., Connell, V., Nowak, N., Richardson, E., Semsarian, C., Skinner, J., van der Smagt, J., Dooijes, D., Bagnall, R., Davis, A., Ingles, J.
المصدر: Heart, Lung and Circulation ; volume 29, page S304 ; ISSN 1443-9506
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Pulmonary and Respiratory Medicine
الإتاحة: https://doi.org/10.1016Test/j.hlc.2020.09.599
https://api.elsevier.com/content/article/PII:S1443950620310763?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1443950620310763?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Bosman, L. P., Verstraelen, T. E., van Lint, F. H. M., Cox, M. G. P. J., Groeneweg, J. A., Mast, T. P., van der Zwaag, P. A., Volders, P. G. A., Evertz, R., Wong, L., de Groot, N. M. S., Zeppenfeld, K., van der Heijden, J. F., van den Berg, M. P., Wilde, A. A. M., Asselbergs, F. W., Hauer, R. N. W., te Riele, A. S. J. M., van Tintelen, J. P., Baas, A. E., Barge-Schaapveld, D. Q. C. M., Boekholdt, S. M., Cramer, M. J. M., Dooijes, D., Jongbloed, J. D. H., Loh, P., Planken, R. N., Prakken, N. H. J., van der Smagt, J. J., van der Wal, A. C., Teske, A. J., van Veen, T. A. B., Velthuis, B. K., Vink, A., Yap, S. C.
المصدر: Bosman , L P , Verstraelen , T E , van Lint , F H M , Cox , M G P J , Groeneweg , J A , Mast , T P , van der Zwaag , P A , Volders , P G A , Evertz , R , Wong , L , de Groot , N M S , Zeppenfeld , K , van der Heijden , J F , van den Berg , M P , Wilde , A A M , Asselbergs , F W , Hauer , R N W , te Riele ....
مصطلحات موضوعية: Cardiomyopathies, Arrhythmogenic right ventricular dysplasia, Research design, Registries, RIGHT-VENTRICULAR CARDIOMYOPATHY, RISK STRATIFICATION, NON-COMPACTION, DIAGNOSIS
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/1d844198-7fd4-4455-8cfb-8f55fd8ed307Test
الإتاحة: https://doi.org/10.1007/s12471-019-1270-1Test
https://cris.maastrichtuniversity.nl/en/publications/1d844198-7fd4-4455-8cfb-8f55fd8ed307Test -
6كتاب
المؤلفون: van der Smagt, J. J., Ingles, Jodie
المصدر: Clinical Cardiogenetics ; page 27-50 ; ISBN 9783030454562 9783030454579
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7دورية أكاديمية
المساهمون: Genetica Klinische Genetica, Circulatory Health, Aios en Stafsecr. Cardiologie, Cardiologie Arts-onderzoekers, Cardiologie
مصطلحات موضوعية: Cardiology, Cardiomyopathy, Dilated, Genetics, Review, Cardiology and Cardiovascular Medicine, Journal Article
وصف الملف: image/pdf
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8دورية أكاديمية
المؤلفون: Jansweijer J. A., Van Spaendonck-Zwarts K. Y., Tanck M. W. T., Peter Van Tintelen J., Christiaans I., Van Der Smagt J., Vermeer A., Bos J. M., Moss A. J., Swan H., Priori S., Rydberg A., Tfelt-Hansen J., Ackerman M., Olivotto I., Charron P., Gimeno J. R., Van Den Berg M., Wilde A., Pinto Y. M.
المساهمون: Jansweijer, J. A., Van Spaendonck-Zwarts, K. Y., Tanck, M. W. T., Peter Van Tintelen, J., Christiaans, I., Van Der Smagt, J., Vermeer, A., Bos, J. M., Moss, A. J., Swan, H., Priori, S., Rydberg, A., Tfelt-Hansen, J., Ackerman, M., Olivotto, I., Charron, P., Gimeno, J. R., Van Den Berg, M., Wilde, A., Pinto, Y. M.
مصطلحات موضوعية: Cardiomyopathy, Channelopathy, Genetic, Twin Study
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31245010; info:eu-repo/semantics/altIdentifier/wos/WOS:000471922200021; volume:6; issue:1; firstpage:e000929; journal:OPEN HEART; http://hdl.handle.net/11571/1314268Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066811581; openheart.bmj.com/
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9دورية أكاديمية
المؤلفون: Christiaans, I., Birnie, E., Bonsel, G. J., Mannens, M. M. A. M., Michels, M., Majoor-Krakauer, D., Dooijes, D., van Tintelen, J. P., van den Berg, M. P., Volders, P. G. A., Arens, Y. H., van den Wijngaard, A., Atsma, D. E., Helderman-van den Enden, A. T. J. M., Houweling, A. C., de Boer, K., van der Smagt, J. J., Hauer, R. N. W., Marcelis, C. L. M., Timmermans, J., van Langen, I. M., Wilde, A. A. M.
المصدر: European Heart Journal ; volume 32, issue 9, page 1161-1170 ; ISSN 0195-668X 1522-9645
الإتاحة: https://doi.org/10.1093/eurheartj/ehr092Test
http://academic.oup.com/eurheartj/article-pdf/32/9/1161/1562099/ehr092.pdfTest -
10دورية أكاديمية
المؤلفون: Hendrix, A., Borleffs, C. J. W., Vink, A., Doevendans, P. A. F. M., Wilde, A. A., van Langen, I. M., van der Smagt, J. J., Bots, M. L., Mosterd, A.
المصدر: Europace ; volume 13, issue 5, page 716-722 ; ISSN 1099-5129 1532-2092
مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine
الإتاحة: https://doi.org/10.1093/europace/euq460Test
http://academic.oup.com/europace/article-pdf/13/5/716/7533765/euq460.pdfTest
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