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1Academic Journal
المؤلفون: Niskanen, JE, Ohlsson, A, Ljungvall, I, Drogemuller, M, Ernst, RF, Dooijes, D, van Deutekom, HWM, van Tintelen, JP, Blok, CJBS, van Vugt, M, van Setten, J, Asselbergs, FW, Petric, AD, Salonen, M, Hundi, S, Hortenhuber, M, Kere, J, Pyle, WG, Donner, J, Postma, AV, Leeb, T, Andersson, G, Hytonen, MK, Haggstrom, J, Wiberg, M, Friederich, J, Eberhard, J, Harakalova, M, van Steenbeek, FG, Wess, G, Lohi, H
المصدر: Genome medicine. 15(1):73
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Bakalkin, G, Watanabe, H, Jezierska, J, Depoorter, C, Verschuuren-Bemelmans, C, Bazov, I, Artemenko, KA, Yakovleva, T, Dooijes, D, Van de Warrenburg, BPC, Zubarev, RA, Kremer, B, Knapp, PE, Hauser, KF, Wijmenga, C, Nyberg, F, Sinke, RJ, Verbeek, DS
المصدر: American journal of human genetics. 87(5):593-603
مصطلحات موضوعية: Medicin och hälsovetenskap
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3Academic Journal
المؤلفون: Jansen, Mark, Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.
المصدر: Jansen , M , Schmidt , A F , Jans , J J M , Christiaans , I , van der Crabben , S N , Hoedemaekers , Y M , Dooijes , D , Jongbloed , J D H , Boven , L G , Lekanne Deprez , R H , Wilde , A A M , van der Velden , J , de Boer , R A , van Tintelen , J P , Asselbergs , F W & Baas , A F 2023 , ' Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity : an Exploratory Cross-Sectional ....
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4Academic Journal
المؤلفون: Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F
المساهمون: Onderzoek Precision medicine, Infectieziekten patientenzorg, Infection & Immunity, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Genetica Klinische Genetica
مصطلحات موضوعية: Acylcarnitine, Biomarker, Hypertrophic Cardiomyopathy, Metabolism, MYBPC3, Cardiology and Cardiovascular Medicine, Genetics(clinical), Genetics, Molecular Medicine, Pharmaceutical Science, Journal Article
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Nagyova, E, Hoorntje, ET, Rijdt, WPT, Bosman, LP, Syrris, P, Protonotarios, A, Elliott, PM, Tsatsopoulou, A, Mestroni, L, Taylor, MRG, Sinagra, G, Merlo, M, Wada, Y, Horie, M, Mogensen, J, Christensen, AH, Gerull, B, Song, L, Yao, Y, Fan, S, Saguner, AM, Duru, F, Koskenvuo, JW, Cruz Marino, T, Tichnell, C, Judge, DP, Dooijes, D, Lekanne Deprez, RH, Basso, C, Pilichou, K, Bauce, B, Wilde, AAM, Charron, P, Fressart, V, van der Heijden, JF, van den Berg, MP, Asselbergs, FW, James, CA, Jongbloed, JDH, Harakalova, M, van Tintelen, JP
المصدر: Journal of Cardiovascular Translational Research (2023) (In press).
مصطلحات موضوعية: ARVC, Arrhythmia, Composite endpoint, Desmosomal genes, Genetics, Multiple variants
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10173573/1/s12265-023-10403-8.pdf; https://discovery.ucl.ac.uk/id/eprint/10173573/
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6Academic Journal
المؤلفون: Welch, CL, Aldred, MA, Balachandar, S, Dooijes, D, Eichstaedt, CA, Graf, S, Houweling, AC, Machado, RD, Pandya, D, Prapa, M, Shaukat, M, Southgate, L, Tenorio-Castano, J, ClinGen PH VCEP, Chung, WK, International Consortium for Genetic Studies in Pulmonary Arteri
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/115602/6/Welch%20et%20al%202023_accepted.pdf; Welch, CL; Aldred, MA; Balachandar, S; Dooijes, D; Eichstaedt, CA; Graf, S; Houweling, AC; Machado, RD; Pandya, D; Prapa, M; et al. Welch, CL; Aldred, MA; Balachandar, S; Dooijes, D; Eichstaedt, CA; Graf, S; Houweling, AC; Machado, RD; Pandya, D; Prapa, M; Shaukat, M; Southgate, L; Tenorio-Castano, J; ClinGen PH VCEP; Chung, WK; International Consortium for Genetic Studies in Pulmonary Arteri (2023) Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension. Genet Med, 25 (11). p. 100925. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2023.100925 SGUL Authors: Southgate, Laura
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7Academic Journal
المؤلفون: Roudijk, RW, Verheul, L, Bosman, LP, Bourfiss, M, Breur, JMPJ, Slieker, MG, Blank, AC, Dooijes, D, van der Heijden, JF, van den Heuvel, F, Clur, SA, Udink ten Cate, FEA, van den Berg, MP, Wilde, AAM, Asselbergs, FW, Peter van Tintelen, J, te Riele, ASJM
المصدر: JACC: Clinical Electrophysiology , 8 (3) pp. 306-318. (2022)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, arrhythmogenic right ventricular cardiomyopathy, cascade screening, genetics, heart failure, pediatric-onset, sudden cardiac death, ventricular tachycardia, TASK-FORCE CRITERIA, CHILDREN, DIAGNOSIS, RISK, ADOLESCENTS, AGE
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10160735/1/Manuscript_PediatricARVC_V8_20210811_ACC.pdf; https://discovery.ucl.ac.uk/id/eprint/10160735/
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8Academic Journal
المؤلفون: de Frutos, F, Ochoa, JP, Navarro-Peñalver, M, Baas, A, Bjerre, JV, Zorio, E, Méndez, I, Lorca, R, Verdonschot, JAJ, García-Granja, PE, Bilinska, Z, Fatkin, D, Fuentes-Cañamero, ME, García-Pinilla, JM, García-Álvarez, MI, Girolami, F, Barriales-Villa, R, Díez-López, C, Lopes, LR, Wahbi, K, García-Álvarez, A, Rodríguez-Sánchez, I, Rekondo-Olaetxea, J, Rodríguez-Palomares, JF, Gallego-Delgado, M, Meder, B, Kubanek, M, Hansen, FG, Restrepo-Córdoba, MA, Palomino-Doza, J, Ruiz-Guerrero, L, Sarquella-Brugada, G, Perez-Perez, AJ, Bermúdez-Jiménez, FJ, Ripoll-Vera, T, Rasmussen, TB, Jansen, M, Sabater-Molina, M, Elliot, PM, Garcia-Pavia, P, Cabrera-Romero, E, Cobo-Marcos, M, Escobar-Lopez, L, Domínguez, F, González-López, E, Gimeno-Blanes, JR, Dooijes, D, López Ledesma, B, Roche Fortea, I, Bermejo, J, Espinosa, MA, Fernández, AI, Vilches, S, Gómez, C, Gómez, J, Coto, E, Rodríguez Reguero, JJ, Heymans, SRB, Brunner, HG, López-Díaz, J, Truszkowska, G, Ploski, R, Chmielewski, P, Johnson, R, Robles-Mezcua, A, Díaz-Expósito, A, Pérez-Cabeza, AI, Jiménez-Rubio, C, Payá, VC, Favilli, S, Syrris, P, Cannie, D, Billon, C, Lopez-Sainz, A, Calvo, M, Fernández de Bobadilla, ÁC, Onaindia-Gandarias, JJ, Gaztañaga-Arantzamendi, L, Zamarreño-Golvano, E, Limeres, J, Gutiérrez-García, L, Villacorta, E, Haas, J, Krebsova, A, Mogensen, J, Cesar, S, Campuzano, O, Gutiérrez, RF, Alvarez-Rubio, J, Cremer-Luengos, D, Antoniutti, G, Caimi-Martinez, F, Macías, R, Jiménez-Jáimez, J, Peña-Peña, ML, Díez-Aja López, SL, Acereda, TP, Corada, BA, Piqueras-Flores, J, Negreira-Caamaño, M
المصدر: Journal of the American College of Cardiology , 80 (15) pp. 1447-1461. (2022)
مصطلحات موضوعية: MYH7, dilated cardiomyopathy, genetics
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10157413/1/1-s2.0-S0735109722057138-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10157413/
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9Academic Journal
المؤلفون: Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., Jans, J. J.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.
المصدر: Jansen , M , Christiaans , I , van der Crabben , S N , Michels , M , Huurman , R , Hoedemaekers , Y M , Dooijes , D , Jongbloed , J D H , Boven , L G , Lekanne Deprez , R H , Wilde , A A M , Jans , J J M , van der Velden , J , de Boer , R A , van Tintelen , J P , Asselbergs , F W & Baas , A F 2021 , ' BIO FOr CARE : biomarkers of hypertrophic cardiomyopathy ....
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10Academic Journal
المؤلفون: Jansen, M, Christiaans, I, van der Crabben, S N, Michels, M, Huurman, R, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F
المساهمون: Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Cancer, Team Medisch
مصطلحات موضوعية: Biomarkers, Hypertrophic cardiomyopathy, MYBPC3, Prognosis, Cardiology and Cardiovascular Medicine, Journal Article
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: van der Klooster, ZJ, Sepehrkhouy, S, Dooijes, D, te Rijdt, WP, Schuiringa, FSAM, Lingeman, J, van Tintelen, JP, Harakalova, M, Goldschmeding, R, Suurmeijer, AJH, Asselbergs, FW, Vink, A
المصدر: Journal of Cellular and Molecular Medicine (2021) (In press).
مصطلحات موضوعية: autophagy, cardiomyopathy, desminopathy, genetic, histology, P62, pathology, phospholamban, senescence, sequestosome‐1
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10123054/1/jcmm.16388.pdf; https://discovery.ucl.ac.uk/id/eprint/10123054/
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12Academic Journal
المؤلفون: Nagyova E., Hoorntje E. T., Rijdt W. P., Bosman L. P., Syrris P., Protonotarios A., Elliott P. M., Tsatsopoulou A., Mestroni L., Taylor M. R. G., Sinagra G., Merlo M., Wada Y., Horie M., Mogensen J., Christensen A. H., Gerull B., Song L., Yao Y., Fan S., Saguner A. M., Duru F., Koskenvuo J. W., Cruz Marino T., Tichnell C., Judge D. P., Dooijes D., Lekanne Deprez R. H., Basso C., Pilichou K., Bauce B., Wilde A. A. M., Charron P., Fressart V., van der Heijden J. F., van den Berg M. P., Asselbergs F. W., James C. A., Jongbloed J. D. H., Harakalova M., van Tintelen J. P.
المساهمون: Nagyova, E., Hoorntje, E. T., Rijdt, W. P., Bosman, L. P., Syrris, P., Protonotarios, A., Elliott, P. M., Tsatsopoulou, A., Mestroni, L., Taylor, M. R. G., Sinagra, G., Merlo, M., Wada, Y., Horie, M., Mogensen, J., Christensen, A. H., Gerull, B., Song, L., Yao, Y., Fan, S., Saguner, A. M., Duru, F., Koskenvuo, J. W., Cruz Marino, T., Tichnell, C., Judge, D. P., Dooijes, D., Lekanne Deprez, R. H., Basso, C., Pilichou, K., Bauce, B., Wilde, A. A. M., Charron, P., Fressart, V., van der Heijden, J. F., van den Berg, M. P., Asselbergs, F. W., James, C. A., Jongbloed, J. D. H., Harakalova, M., van Tintelen, J. P.
مصطلحات موضوعية: Arrhythmia, ARVC, Composite endpoint, Desmosomal gene, Genetic, Multiple variants
Relation: info:eu-repo/semantics/altIdentifier/pmid/37418234; info:eu-repo/semantics/altIdentifier/wos/WOS:001027955800001; journal:JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH; https://hdl.handle.net/11577/3493663; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164170998
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13Academic Journal
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
Relation: http://repub.eur.nl/pub/126037; urn:hdl:1765/126037
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14Electronic Resource
المؤلفون: Onderzoek Precision medicine, Brain, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F
URL:
https://doi.org/10.1007/s12265-023-10398-2 http://hdl.handle.net/1874/449340 https://dspace.library.uu.nl/handle/1874/449340 http://www.scopus.com/inward/record.url?scp=85161306588&partnerID=8YFLogxK
1937-5387
Journal of Cardiovascular Translational Research
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15Academic Journal
المؤلفون: Sammani, A., Jansen, M., Linschoten, M., Bagheri, A., de Jonge, N., Kirkels, H., van Laake, L. W., Vink, A., van Tintelen, J. P., Dooijes, D., te Riele, A. S.J.M., Harakalova, M., Baas, A. F., Asselbergs, F. W.
المساهمون: Device, Onderzoek Precision medicine, Genetica, Genetica Klinische Genetica, Team Medisch, Circulatory Health, Regenerative Medicine and Stem Cells, Pathologie Stafondersteuning, Pathologie Pathologen staf, Genetica Sectie Genoomdiagnostiek, Arts Assistenten Cardiologie
مصطلحات موضوعية: Big data analytics, Biobanking, Cardiomyopathy, Electronic health record, Machine learning, Research data platform, Cardiology and Cardiovascular Medicine
وصف الملف: image/pdf
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16Academic Journal
المؤلفون: Bosman, LP, Verstraelen, TE, van Lint, FHM, Cox, M, Groeneweg, JA, Mast, TP, van der Zwaag, PA, Volders, PG, Evertz, R, Wong, L, de Groot, Natasja, Zeppenfeld, K, van der Heijden, JF, Van Den Berg, MP, Wilde, AA, Asselbergs, FW, Hauer, RN, te Riele, A, Tintelen, JP, Baas, AE, Barge-Schaapveld, D, Boekholdt, SM, Cramer, MJM, Dooijes, D, Jongbloed, JD, Loh, P, Planken, RN, Prakken, NHJ, van der Smagt, JJ, v.d. Wal, AC, Teske, AJ, van Veen, TA, Velthuis, BK, Vink, A, Yap, Sing
المصدر: Bosman , LP , Verstraelen , TE , van Lint , FHM , Cox , M , Groeneweg , JA , Mast , TP , van der Zwaag , PA , Volders , PG , Evertz , R , Wong , L , de Groot , N , Zeppenfeld , K , van der Heijden , JF , Van Den Berg , MP , Wilde , AA , Asselbergs , FW , Hauer , RN , te Riele , A , Tintelen , JP , Baas , AE , Barge-Schaapveld , D , Boekholdt , SM , Cramer , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCONWAR015802, name=EMC ONWAR-01-58-02
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: Sammani, A, Jansen, M, Linschoten, M, Bagheri, A, de Jonge, N, Kirkels, H, van Laake, LW, Vink, A, van Tintelen, JP, Dooijes, D, Te Riele, ASJM, Harakalova, M, Baas, AF, Asselbergs, FW
المصدر: Netherlands Heart Journal , 27 (9) pp. 426-434. (2019)
مصطلحات موضوعية: Big data analytics, Biobanking, Cardiomyopathy, Electronic health record, Machine learning, Research data platform
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10081740/1/Sammani2019_Article_UNRAVELBigDataAnalyticsResearc.pdf; https://discovery.ucl.ac.uk/id/eprint/10081740/
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18Academic Journal
المؤلفون: Jansen, M, Baas, AF, van Spaendonck-Zwarts, KY, Ummels, AS, van den Wijngaard, A, Jongbloed, JDH, van Slegtenhorst, MA, Deprez, RHL, Wessels, MW, Michels, M, Houweling, AC, Hoorntje, ET, Helderman-van den Enden, PJTM, Barge-Schaapveld, DQCM, van Tintelen, JP, van den Berg, MP, Wilde, AAM, van Amstel, HKP, Hennekam, EAM, Asselbergs, FW, Sijbrands, EJG, Dooijes, D
المصدر: Circulation: Genomic and Precision Medicine , 12 (5) pp. 213-220. (2019)
مصطلحات موضوعية: dilated cardiomyopathy, titin, natural history
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10081392/1/Manuscript%20Mortality%20Risk%20TTNtv%20submitted.pdf; https://discovery.ucl.ac.uk/id/eprint/10081392/
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19Academic Journal
المؤلفون: Dooijes, D., Siemelink, M., Baas, A. F.
المصدر: Netherlands Heart Journal ; volume 27, issue 6, page 297-298 ; ISSN 1568-5888 1876-6250
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20Academic Journal
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
Relation: https://academic.oup.com/europace/article/25/11/euad336/7423993; lumc-id: 188365721; https://hdl.handle.net/1887/3764402