Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Yvonne M Hoedemaekers"'
Autor:
J Peter van Tintelen, Imke Christiaans, Lieke M van den Heuvel, Yvonne M Hoedemaekers, Annette F Baas, Ellen M A Smets
Publikováno v:
BMJ Open, Vol 9, Iss 7 (2019)
Introduction In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic
Externí odkaz:
https://doaj.org/article/28b47ad61ecf4d37ae76a46690eba056
Autor:
Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. van der Zwaag
Publikováno v:
Cardiogenetics, Vol 9, Iss 1 (2019)
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLN
Externí odkaz:
https://doaj.org/article/a6e065bad67c4aa9b96b6f91545fe641
Autor:
Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling
Publikováno v:
Experimental dermatology, 31(6), 970-979. Blackwell Publishing Ltd
Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8890f8fa650c13048f6563c0db10cf37
https://research.rug.nl/en/publications/f18f342a-2852-4350-9e52-5c7076260c0b
https://research.rug.nl/en/publications/f18f342a-2852-4350-9e52-5c7076260c0b
Autor:
Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas
Publikováno v:
International journal of molecular sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 24(4):4031. MDPI AG
International Journal of Molecular Sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4031
International Journal of Molecular Sciences, 24, 4
International Journal of Molecular Sciences, 24
Jansen, M, Schuldt, M, van Driel, B O, Schmidt, A F, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Deprez, R H L, 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 2023, ' Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants ', International Journal of Molecular Sciences, vol. 24, no. 4, 4031 . https://doi.org/10.3390/ijms24044031
International Journal of Molecular Sciences, 24(4):4031. MDPI AG
International Journal of Molecular Sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4031
International Journal of Molecular Sciences, 24, 4
International Journal of Molecular Sciences, 24
Jansen, M, Schuldt, M, van Driel, B O, Schmidt, A F, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Deprez, R H L, 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 2023, ' Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants ', International Journal of Molecular Sciences, vol. 24, no. 4, 4031 . https://doi.org/10.3390/ijms24044031
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d72bb1c895193fff307bea1dc49f526e
https://pure.amc.nl/en/publications/untargeted-metabolomics-identifies-potential-hypertrophic-cardiomyopathy-biomarkers-in-carriers-of-mybpc3-founder-variants(d14b78ac-9af3-4c14-8c03-92cca76f9660).html
https://pure.amc.nl/en/publications/untargeted-metabolomics-identifies-potential-hypertrophic-cardiomyopathy-biomarkers-in-carriers-of-mybpc3-founder-variants(d14b78ac-9af3-4c14-8c03-92cca76f9660).html
Autor:
Mohamed Z. Alimohamed, Ludolf G. Boven, Krista K. van Dijk, Yvonne J. Vos, Yvonne M. Hoedemaekers, Paul A. van der Zwaag, Rolf H. Sijmons, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz, Helga Westers
Publikováno v:
Gene, 851
Gene, 851:146984. Elsevier
Gene, 851:146984. Elsevier
Background: Splice prediction algorithms currently used in routine DNA diagnostics have limited sensitivity and specificity, therefore many potential splice variants are classified as variants of uncertain significance (VUSs). However, functional ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7e0b949865ee8caff97c9b88114508
https://hdl.handle.net/2066/285291
https://hdl.handle.net/2066/285291
Autor:
Ludolf G. Boven, Yvonne M. Hoedemaekers, J. van der Velden, J. P. van Tintelen, A. A. M. Wilde, S. N. van der Crabben, Dennis Dooijes, Roy Huurman, Folkert W. Asselbergs, Jan D. H. Jongbloed, Judith J.M. Jans, Michelle Michels, Annette F. Baas, R. H. Lekanne Deprez, I. Christiaans, R. A. De Boer, Mandy Jansen
Publikováno v:
Netherlands Heart Journal, 29, 6, pp. 318-29
Netherlands Heart Journal, 29(6), 318-329. Bohn Stafleu van Loghum
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 development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status ', Netherlands Heart Journal, vol. 29, no. 6, pp. 318-329 . https://doi.org/10.1007/s12471-021-01539-w
Netherlands heart journal, 29(6), 318-329. Bohn Stafleu van Loghum
Netherlands Heart Journal, 29, 318-29
Netherlands Heart Journal
Netherlands Heart Hournal, 29, 318-329. Bohn, Stafleu, Van Loghum
Netherlands Heart Journal, 29(6), 318-329. Bohn Stafleu van Loghum
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 development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status ', Netherlands Heart Journal, vol. 29, no. 6, pp. 318-329 . https://doi.org/10.1007/s12471-021-01539-w
Netherlands heart journal, 29(6), 318-329. Bohn Stafleu van Loghum
Netherlands Heart Journal, 29, 318-29
Netherlands Heart Journal
Netherlands Heart Hournal, 29, 318-329. Bohn, Stafleu, Van Loghum
Background Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetranc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ebb83ee15e629508d991092075c7e2
https://doi.org/10.1007/s12471-021-01539-w
https://doi.org/10.1007/s12471-021-01539-w
Autor:
Marja W. Wessels, Yvonne M. Hoedemaekers, Alexander Hirsch, Jaap I. van Waning, Michiel Dalinghaus, Michelle Michels, Kadir Caliskan, Marjon van Slegtenhorst, Arend F.L. Schinkel, Arne S. IJpma, Robert M.W. Hofstra, Danielle Majoor-Krakauer
Publikováno v:
Journal of the American College of Cardiology, 73(13), 1601-1611. ELSEVIER SCIENCE INC
Journal of the American College of Cardiology, 73(13), 1601-1611. Elsevier Inc.
Journal of the American College of Cardiology, 73(13), 1601-1611. Elsevier Inc.
BACKGROUND There is overlap in genetic causes and cardiac features in noncompaction cardiomyopathy (NCCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM).OBJECTIVES The goal of this study was to predict phenotype and outcome in r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fdeea5a32d8d71334f80d1250856cb
https://doi.org/10.1016/j.jacc.2018.12.085
https://doi.org/10.1016/j.jacc.2018.12.085
Autor:
Rolf H. Sijmons, Paul A. van der Zwaag, Mohamed Z. Alimohamed, Jan D. H. Jongbloed, Helga Westers, Richard J. Sinke, Anna Posafalvi, Ludolf G. Boven, Krista K. van Dijk, Lisa Walters, Lennart Johansson, Birgit Sikkema-Raddatz, Yvonne M. Hoedemaekers, Yvonne J. Vos
Publikováno v:
International Journal of Cardiology, 332, pp. 99-104
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
International Journal of Cardiology, 332, 99-104
International Journal of Cardiology, 332, 99-104. ELSEVIER IRELAND LTD
Background: Next-generation sequencing (NGS) is increasingly used for clinical evaluation of cardiomyopathy patients as it allows for simultaneous screening of multiple cardiomyopathy-associated genes. Adding copy number variant (CNV) analysis of NGS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a0aa46f1b24d7ef4d72746604e3daf
Autor:
Lieke M van den Heuvel, Ellen M. A. Smets, J. Peter van Tintelen, Annette F. Baas, Marieke J.H. Baars, Imke Christiaans, Yvonne M. Hoedemaekers
Publikováno v:
European Journal of Human Genetics, 30, 203-10
van den Heuvel, L M, Hoedemaekers, Y M, Baas, A F, Baars, M J H, van Tintelen, J P, Smets, E M A & Christiaans, I 2021, ' A tailored approach to informing relatives at risk of inherited cardiac conditions : results of a randomised controlled trial ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00993-9
Eur J Hum Genet
European journal of human genetics, 30(2), 203-210. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30(2), 203-210. Nature Publishing Group
European Journal of Human Genetics, 30, 2, pp. 203-10
van den Heuvel, L M, Hoedemaekers, Y M, Baas, A F, Baars, M J H, van Tintelen, J P, Smets, E M A & Christiaans, I 2021, ' A tailored approach to informing relatives at risk of inherited cardiac conditions : results of a randomised controlled trial ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00993-9
Eur J Hum Genet
European journal of human genetics, 30(2), 203-210. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30(2), 203-210. Nature Publishing Group
European Journal of Human Genetics, 30, 2, pp. 203-10
If undetected, inherited cardiac conditions can lead to sudden cardiac death, while treatment options are available. Predictive DNA testing is therefore advised for at-risk relatives, and probands are currently asked to inform relatives about this. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8a28b992a4f3f0e15c985a0533b869
https://doi.org/10.1038/s41431-021-00993-9
https://doi.org/10.1038/s41431-021-00993-9
Autor:
Yvonne M. Hoedemaekers, M. Ben Shoemaker, Pascale Guicheney, Antoine Leenhardt, Andrea Mazzanti, Minoru Horie, Jan H. Veldink, Isabelle Denjoy, Yu Kucho, Chiea Chuen Khor, Tomas Robyns, Carlo Napolitano, Peter Weeke, J. Martijn Bos, David J. Tester, Hanno L. Tan, Annika Rydberg, Patrick T. Ellinor, Pilar Galan, Taisuke Ishikawa, Seiko Ohno, Peter J. Schwartz, Masao Yoshinaga, Thomas Werge, Marta Ribasés, Bart Loeys, Jean-Jacques Schott, Jacob Tfelt-Hansen, Ulla-Britt Diamant, Marko Ernsting, Georgia Sarquella-Brugada, Yuka Mizusawa, Michael Christiansen, Pyotr G. Platonov, Annika Winbo, Thomas Meitinger, Keiko Shimamoto, Cristina Barlassina, Pieter G. Postema, Takeru Makiyama, Maarten P. van den Berg, Yanushi D. Wijeyeratne, Wataru Shimizu, Charles Antzelevitch, Christopher Newton-Cheh, Martina Müller-Nurasyid, Dan M. Roden, Vincent Probst, Takeshi Aiba, Lia Crotti, Daniele Cusi, Britt M. Beckmann, Johan Saenen, Peter Lichtner, Oscar Campuzano, Tin Aung, Nynke Hofman, Morten S. Olesen, Matteo Pedrazzini, Elijah R. Behr, Karen E. Morrison, Najim Lahrouchi, Katja E. Odening, Andrew D. Krahn, Kari L. Turkowski, J. Peter van Tintelen, Steven A. Lubitz, Federica Dagradi, Josep Brugada, Julien Barc, Birgit Stallmeyer, Stefan Kääb, Sven Zumhagen, Jonathan R. Skinner, Michael W.T. Tanck, Christopher Shaw, Brianna Davies, Eric Schulze-Bahr, Mineo Ozaki, Roddy Walsh, Antoine Andorin, Leonard H. van den Berg, Silvia G. Priori, Johannes Steinfurt, Jean-Baptiste Gourraud, Eline A. Nannenberg, Mark Lathrop, Rafik Tadros, Ramon Brugada, Leander Beekman, Peter M. Andersen, Ryan Pfeiffer, Boris Rudic, Reza Jabbari, Kanae Hasegawa, Jeroen Breckpot, Naomasa Makita, Michael J. Ackerman, Arthur A.M. Wilde, Hideki Itoh, Martin Borggrefe, Elena Arbelo, Connie R. Bezzina, Pamela J. Shaw, Ammar Al-Chalabi, Markus Munter
Publikováno v:
Circulation, 142(4), 324-338. Lippincott Williams and Wilkins
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06b61364655bada7ed23840f1c05d61
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html