المؤلفون: Arbelo, Elena, Protonotarios, Alexandros, Gimeno, Juan R., Arbustini, Eloisa, Barriales-Villa, Roberto, Basso, Cristina, Bezzina, Connie R., Biagini, Elena, Blom, Nico A., de Boer, Rudolf A., De Winter, Tim, Elliott, Perry M., Flather, Marcus, Garcia-Pavia, Pablo, Haugaa, Kristina H., Ingles, Jodie, Jurcut, Ruxandra Oana, Klaassen, Sabine, Limongelli, Giuseppe, Loeys, Bart, Mogensen, Jens, Olivotto, Iacopo, Pantazis, Antonis, Sharma, Sanjay, Van Tintelen, J. Peter, Ware, James S., Kaski, Juan Pablo

المصدر: Polish Heart Journal (Kardiologia Polska); Vol 81, Supp. IV (2023): Zeszyty Edukacyjne 5–6/2023; 1-119

وصف الملف: application/pdf

العلاقة: https://journals.viamedica.pl/polish_heart_journal/article/view/99615Test

الإتاحة: https://journals.viamedica.pl/polish_heart_journal/article/view/99615Test

المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R

مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/186976Test

الإتاحة: https://doi.org/20.500.12278/186976Test
https://doi.org/10.1038/s41588-021-01007-6Test
https://oskar-bordeaux.fr/handle/20.500.12278/186976Test
https://hdl.handle.net/20.500.12278/186976Test

المؤلفون: Thomson, Kate L., Jiang, Connie, Richardson, Ebony, Westphal, Dominik S., Burkard, Tobias, Wolf, Cordula M., Vatta, Matteo, Harrison, Steven M., Ingles, Jodie, Bezzina, Connie R., Kroncke, Brett M., Vandenberg, Jamie I., Ng, Chai-Ann

المساهمون: NHMRC, NSW Health

المصدر: Human Genetics and Genomics Advances ; volume 5, issue 2, page 100270 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100270Test
https://api.elsevier.com/content/article/PII:S2666247724000095?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247724000095?httpAccept=text/plainTest

المؤلفون: Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

المصدر: Genetics in Medicine. 23(1):47-58

مصطلحات موضوعية: variant interpretation, LQTS, Brugada, ACMG/AMP guidelines

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175470Test
https://doi.org/10.1038/s41436-020-00946-5Test
https://umu.diva-portal.org/smash/get/diva2:1472613/FULLTEXT02.pdfTest

المؤلفون: 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, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Oscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., 1962, Mueller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribases, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramon, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kaeaeb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W. T., Bezzina, Connie R.

المصدر: Circulation. 142(4):324-338

مصطلحات موضوعية: genome-wide association study, inheritance patterns, long QT syndrome

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-174908Test
https://doi.org/10.1161/CIRCULATIONAHA.120.045956Test
https://umu.diva-portal.org/smash/get/diva2:1466263/FULLTEXT01.pdfTest

المؤلفون: Ashar, Foram N, Mitchell, Rebecca N, Albert, Christine M, Newton-Cheh, Christopher, Brody, Jennifer A, Müller-Nurasyid, Martina, Moes, Anna, Meitinger, Thomas, Mak, Angel, Huikuri, Heikki, Junttila, M Juhani, Goyette, Philippe, Pulit, Sara L, Pazoki, Raha, Tanck, Michael W, Blom, Marieke T, Zhao, XiaoQing, Havulinna, Aki S, Jabbari, Reza, Glinge, Charlotte, Tragante, Vinicius, Escher, Stefan A, Chakravarti, Aravinda, Ehret, Georg, Coresh, Josef, Li, Man, Prineas, Ronald J, Franco, Oscar H, Kwok, Pui-Yan, Lumley, Thomas, Dumas, Florence, McKnight, Barbara, Rotter, Jerome I, Lemaitre, Rozenn N, Heckbert, Susan R, O’Donnell, Christopher J, Hwang, Shih-Jen, Tardif, Jean-Claude, VanDenburgh, Martin, Uitterlinden, André G, Hofman, Albert, Stricker, Bruno HC, de Bakker, Paul IW, Franks, Paul W, Jansson, Jan-Hakan, Asselbergs, Folkert W, Halushka, Marc K, Maleszewski, Joseph J, Tfelt-Hansen, Jacob, Engstrøm, Thomas, Salomaa, Veikko, Virmani, Renu, Kolodgie, Frank, Wilde, Arthur AM, Tan, Hanno L, Bezzina, Connie R, Eijgelsheim, Mark, Rioux, John D, Jouven, Xavier, Kääb, Stefan, Psaty, Bruce M, Siscovick, David S, Arking, Dan E, Sotoodehnia, Nona

المصدر: European Heart Journal. 39(44)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Prevention, Heart Disease, Human Genome, Genetics, Clinical Research, Heart Disease - Coronary Heart Disease, Cardiovascular, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Arrhythmias, Cardiac, Body Mass Index, Coronary Artery Disease, Death, Sudden, Cardiac, Female, Genome-Wide Association Study, Heart Conduction System, Humans, Male, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Sex Factors, Sudden cardiac arrest, Genome-wide association study, Mendelian randomization, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1tk125gmTest

المؤلفون: Copier, Jaël S., Bootsma, Marianne, Ng, Chai A., Wilde, Arthur A. M., Bertels, Robin A., Bikker, Hennie, Christiaans, Imke, van der Crabben, Saskia N., Hol, Janna A., Koopmann, Tamara T., Knijnenburg, Jeroen, Lommerse, Aafke A. J., van der Smagt, Jasper J., Bezzina, Connie R., Vandenberg, Jamie I., Verkerk, Arie O., Barge-Schaapveld, Daniela Q. C. M., Lodder, Elisabeth M.

المصدر: Copier , J S , Bootsma , M , Ng , C A , Wilde , A A M , Bertels , R A , Bikker , H , Christiaans , I , van der Crabben , S N , Hol , J A , Koopmann , T T , Knijnenburg , J , Lommerse , A A J , van der Smagt , J J , Bezzina , C R , Vandenberg , J I , Verkerk , A O , Barge-Schaapveld , D Q C M & Lodder , E M 2023 , ' Reclassification of a ....

العلاقة: https://research.vumc.nl/en/publications/9b00c3f8-9873-42ac-bfb9-46f0292eee55Test

الإتاحة: https://doi.org/10.1093/hmg/ddac261Test
https://research.vumc.nl/en/publications/9b00c3f8-9873-42ac-bfb9-46f0292eee55Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150665873&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/36269083Test

المؤلفون: van der Voorn, Stephanie M, van Drie, Esmée, Proost, Virginnio, Dimitrova, Kristina, Netherlands ACM/PLN Registry, Ernst, Robert F, James, Cynthia A, Tichnell, Crystal, Murray, Brittney, Calkins, Hugh, Saguner, Ardan M, Duru, Firat, Ellinor, Patrick T, Bezzina, Connie R, Jurgens, Sean J, van Tintelen, J Peter, van Veen, Toon A B

المصدر: van der Voorn, Stephanie M; van Drie, Esmée; Proost, Virginnio; Dimitrova, Kristina; Netherlands ACM/PLN Registry; Ernst, Robert F; James, Cynthia A; Tichnell, Crystal; Murray, Brittney; Calkins, Hugh; Saguner, Ardan M; Duru, Firat; Ellinor, Patrick T; Bezzina, Connie R; Jurgens, Sean J; van Tintelen, J Peter; van Veen, Toon A B (2023). Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. International Journal of Molecular Sciences, 24(21):15931.

مصطلحات موضوعية: Clinic for Cardiology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/257565/1/ZORA257565.pdfTest; info:pmid/37958923; urn:issn:1422-0067

الإتاحة: https://doi.org/10.5167/uzh-25756510.3390/ijms242115931Test
https://www.zora.uzh.ch/id/eprint/257565Test/
https://www.zora.uzh.ch/id/eprint/257565/1/ZORA257565.pdfTest

المؤلفون: Woudstra, Odilia I., Skoric-Milosavljevic, Doris, Mulder, Barbara J.M., Meijboom, Folkert J., Post, Marco C., Jongbloed, Monique R.M., van Dijk, Arie P.J., van Melle, Joost P., Konings, Thelma C., Postma, Alex V., Bezzina, Connie R., Bouma, Berto J., Tanck, Michael W.T.

المساهمون: Cardiologie, Team Medisch, Circulatory Health

مصطلحات موضوعية: Genome-wide association study, Heart failure, Mustard repair, Polygenic risk score, Transposition of the great arteries, Cardiology and Cardiovascular Medicine

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/448721Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/448721Test

المؤلفون: Pham, Caroline, Andrzejczyk, Karolina, Jurgens, Sean J., Lekanne Deprez, Ronald, Palm, Kaylin C.A., Vermeer, Alexa M.C., Nijman, Janneke, Christiaans, Imke, Barge-Schaapveld, Daniela Q.C.M., van Dessel, Pascal F.H.M., Beekman, Leander, Choi, Seung Hoan, Lubitz, Steven A., Skoric-Milosavljevic, Doris, van den Bersselaar, Lisa, Jansen, Philip R., Copier, Jaël S., Ellinor, Patrick T., Wilde, Arthur A.M., Bezzina, Connie R., Lodder, Elisabeth M.

المصدر: Pham , C , Andrzejczyk , K , Jurgens , S J , Lekanne Deprez , R , Palm , K C A , Vermeer , A M C , Nijman , J , Christiaans , I , Barge-Schaapveld , D Q C M , van Dessel , P F H M , Beekman , L , Choi , S H , Lubitz , S A , Skoric-Milosavljevic , D , van den Bersselaar , L , Jansen , P R , Copier , J S , Ellinor , P T , Wilde , A A M , Bezzina ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/a1e52a90-54c0-4044-b2a1-b45ba1dd5000Test

الإتاحة: https://doi.org/10.1161/CIRCGEN.122.003975Test
https://pure.eur.nl/en/publications/a1e52a90-54c0-4044-b2a1-b45ba1dd5000Test
https://pure.eur.nl/ws/files/98942683/Genetic_Burden_of_TNNI3K_in_Diagnostic_Testing_of_Patients_With_Dilated_Cardiomyopathy_and_Supraventricular_Arrhythmias.pdfTest
http://www.scopus.com/inward/record.url?scp=85168222844&partnerID=8YFLogxKTest