المؤلفون: Bergeman, Auke, Lieve, Krystien, Kallas, Dania, Bos, J, Rosés I Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke, Peltenburg, Puck, Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan, Brugada, Ramon, Borggrefe, Martin, Clur, Sally-Ann, Cox, Moniek, Davis, Andrew, Dhillon, Santokh, Etheridge, Susan, Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin, Krause, Ulrich, Kwok, Sit-Yee, LaPage, Martin, Ohno, Seiko, Probst, Vincent, Roberts, Jason, Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan, Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing-Chien, Kannankeril, Prince, Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael, Ackerman, Michael, Wilde, Arthur, van der Werf, Christian

المصدر: Circulation. 148(25)

مصطلحات موضوعية: catecholaminergic polymorphic ventricular tachycardia, sudden cardiac death, ventricular arrhythmias, Female, Humans, Adolescent, Male, Flecainide, Incidence, Cross-Over Studies, Tachycardia, Ventricular, Adrenergic beta-Antagonists, Defibrillators, Implantable, Death, Sudden, Cardiac

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8q02z3r9
https://escholarship.org/content/qt8q02z3r9/qt8q02z3r9.pdf

المؤلفون: Lamba, Avani, Roston, Thomas M., Peltenburg, Puck J., Kallas, Dania, Franciosi, Sonia, Lieve, Krystien V.V., Kannankeril, Prince J., Horie, Minoru, Ohno, Seiko, Brugada, Ramon, Sanatani, Shubhayan

المساهمون: Lamba, Avani, Roston, Thomas M., Peltenburg, Puck J., Kallas, Dania, Franciosi, Sonia, Lieve, Krystien V.V., Kannankeril, Prince J., Horie, Minoru, Ohno, Seiko, Brugada, Ramon, Sanatani, Shubhayan

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/143240; S1547527124023233

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/143240
https://doi.org/10.1016/j.hrthm.2024.04.006

المؤلفون: Baudic, Manon, Murata, Hiroshige, Bosada, Fernanda M., Melo, Uira Souto, Aizawa, Takanori, Lindenbaum, Pierre, van der Maarel, Lieve E., Guedon, Amaury, Baron, Estelle, Fremy, Enora, Foucal, Adrien, Ishikawa, Taisuke, Ushinohama, Hiroya, Jurgens, Sean J., Choi, Seung Hoan, Kyndt, Florence, Le Scouarnec, Solena, Wakker, Vincent, Thollet, Aurélie, Rajalu, Annabelle, Takaki, Tadashi, Ohno, Seiko, Shimizu, Wataru, Horie, Minoru, Kimura, Takeshi, Ellinor, Patrick T., Petit, Florence, Dulac, Yves, Bru, Paul, Boland, Anne, Deleuze, Jean-François, Redon, Richard, Le Marec, Hervé, Le Tourneau, Thierry, Gourraud, Jean-Baptiste, Yoshida, Yoshinori, Makita, Naomasa, Vieyres, Claude, Makiyama, Takeru, Mundlos, Stephan, Christoffels, Vincent M., Probst, Vincent, Schott, Jean-Jacques, Barc, Julien

المساهمون: ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam University Medical Centers (Amsterdam UMC), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, Kyoto University Graduate School of Medicine Kyoto, Japan (KUGSM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, Kyoto University, National Center for Global Health and Medicine Japan (NCGM), National cerebral and cardiovascular center research institute, Shiga University of Medical Science, Massachusetts General Hospital Boston, Harvard Medical School Boston (HMS), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Hôpital Jeanne de Flandre Lille, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpitaux La Rochelle Ré Aunis Groupe hospitalier littoral Atlantique, Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Saclay, European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Clinique Saint-Joseph Angoulême (CSJA), ANR-11-INBS-0013,IFB (ex Renabi-IFB),Institut français de bioinformatique(2011)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38643172; PUBMED: 38643172; PUBMEDCENTRAL: PMC11032321

الاتاحة: https://hal.univ-lille.fr/hal-04630944
https://hal.univ-lille.fr/hal-04630944v1/document
https://hal.univ-lille.fr/hal-04630944v1/file/s41467-024-47739-x.pdf
https://doi.org/10.1038/s41467-024-47739-x

المؤلفون: Shimamoto, Keiko, Sumitomo, Naokata, Nabeshima, Taisuke, Ohno, Seiko, Shimizu, Wataru, Kusano, Kengo, Aiba, Takeshi

المساهمون: Japan Agency for Medical Research and Development

المصدر: JACC: Case Reports ; volume 29, issue 11, page 102364 ; ISSN 2666-0849

الاتاحة: http://dx.doi.org/10.1016/j.jaccas.2024.102364
https://api.elsevier.com/content/article/PII:S2666084924001578?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666084924001578?httpAccept=text/plain

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

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

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

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

المؤلفون: Bergeman, Auke T., Lieve, Krystien V.V., Kallas, Dania, Bos, J. Martijn, Rosés I Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke A.E., Peltenburg, Puck J., Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan S., Brugada, Ramon, Borggrefe, Martin, Clur, Sally Ann B., Cox, Moniek G.P.J., Davis, Andrew, Dhillon, Santokh, Etheridge, Susan P., Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin M., Krause, Ulrich, Kwok, Sit Yee, Lapage, Martin J., Ohno, Seiko, Probst, Vincent, Roberts, Jason D., Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan R., Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing Chien, Kannankeril, Prince J., Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael W.T., Ackerman, Michael J., Wilde, Arthur A.M., Van Der Werf, Christian

المصدر: Bergeman , A T , Lieve , K V V , Kallas , D , Bos , J M , Rosés I Noguer , F , Denjoy , I , Zorio , E , Kammeraad , J A E , Peltenburg , P J , Tobert , K , Aiba , T , Atallah , J , Drago , F , Batra , A S , Brugada , R , Borggrefe , M , Clur , S A B , Cox , M G P J , Davis , A , Dhillon , S , Etheridge , S P ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/d1ee9e07-9b19-4d7d-a4c1-6480c746b324
https://doi.org/10.1161/CIRCULATIONAHA.123.064786
https://pure.eur.nl/ws/files/123617011/bergeman-et-al-2023-flecainide-is-associated-with-a-lower-incidence-of-arrhythmic-events-in-a-large-cohort-of-patients.pdf
http://www.scopus.com/inward/record.url?scp=85180080164&partnerID=8YFLogxK

المؤلفون: Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T, Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D, Baban, Anwar, Barc, Julien, Beach, Cheyenne M, Behr, Elijah R, Bos, J Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P, Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jaimez, Juan Jiménez, Jensen, Henrik Kjærulf, Kannankeril, Prince J, Kaski, Juan P, Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E, Vinocur, Jeffrey M

المصدر: Crotti , L , Spazzolini , C , Nyegaard , M , Overgaard , M T , Kotta , M-C , Dagradi , F , Sala , L , Aiba , T , Ayers , M D , Baban , A , Barc , J , Beach , C M , Behr , E R , Bos , J M , Cerrone , M , Covi , P , Cuneo , B , Denjoy , I , Donner , B , Elbert , A , Eliasson , H , Etheridge , S P , Fukuyama , M , Girolami ....

مصطلحات موضوعية: Calmodulin/genetics, Child, Death, Sudden, Cardiac/etiology, Humans, Long QT Syndrome/diagnosis, Mutation/genetics, Registries, Tachycardia, Ventricular/diagnosis, Sudden death, Idiopathic ventricular fibrillation, Long QT syndrome, Cardiomyopathies, Catecholaminergic polymorphic ventricular tachycardia, Calmodulin, Neurological disorders

وصف الملف: application/pdf

الاتاحة: https://pure.au.dk/portal/en/publications/589ac800-9e4c-464e-b3ed-816ef85556b3
https://doi.org/10.1093/eurheartj/ehad418
https://pure.au.dk/ws/files/409574799/ehad418.pdf
http://www.scopus.com/inward/record.url?scp=85170699059&partnerID=8YFLogxK

المؤلفون: Aizawa, Takanori, Wada, Yuko, Hasegawa, Kanae, Huang, Hai, Imamura, Tomohiko, Gao, Jingshan, Kashiwa, Asami, Kohjitani, Hirohiko, Fukuyama, Megumi, Kato, Koichi, Kato, Eri Toda, Hisamatsu, Takashi, Ohno, Seiko, Makiyama, Takeru, Kimura, Takeshi, Horie, Minoru

المساهمون: 相澤, 卓範, 黄, 海, 今村, 知彦, 高, 景山, 柏, 麻美, 糀谷, 泰彦, 加藤, 恵理, 牧山, 武, 90823013, 30528302

مصطلحات موضوعية: Long QT syndrome, KCNH2, Arrhythmia, Prognosis, Molecular mechanism

Relation: http://hdl.handle.net/2433/283312; EP Europace; 25; 1491; 1499

الاتاحة: http://hdl.handle.net/2433/283312

المؤلفون: Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T., Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D., Baban, Anwar, Barc, Julien, Beach, Cheyenne M., Behr, Elijah R., Bos, J. Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P., Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jiménez-Jaimez, Juan, Jensen, Henrik Kjærulf, Kannankeril, Prince J., Kaski, Juan P., Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H., Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E., Vinocur, Jeffrey M., Webster, Gregory, Wilde, Arthur A. M., Wolf, Cordula M., Ackerman, Michael J., Schwartz, Peter J.

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Calmodulin, Cardiomyopathies, Catecholaminergic polymorphic ventricular tachycardia, Idiopathic ventricular fibrillation, Long QT syndrome, Neurological disorders, Sudden death

وصف الملف: application/pdf

Relation: European Heart Journal; Crotti L, Spazzolini C, Nyegaard M, et al. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. Eur Heart J. 2023;44(35):3357-3370. doi:10.1093/eurheartj/ehad418; https://hdl.handle.net/1805/39276

الاتاحة: https://hdl.handle.net/1805/39276

المؤلفون: Brugada, Ramon, Borggrefe, Martin, Clur, Sally-Ann, Cox, Moniek, Davis, Andrew, Dhillon, Santokh, Etheridge, Susan, Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin, Krause, Ulrich, Kwok, Sit-Yee, LaPage, Martin, Ohno, Seiko, Probst, Vincent, Roberts, Jason, Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan, Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing-Chien, Kannankeril, Prince, Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael, Ackerman, Michael, Wilde, Arthur, van der Werf, Christian, Bergeman, Auke, Lieve, Krystien, Kallas, Dania, Bos, Johan, Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke, Peltenburg, P, Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan

المصدر: Circulation, vol 148, iss 25

مصطلحات موضوعية: catecholaminergic polymorphic ventricular tachycardia, sudden cardiac death, ventricular arrhythmias, Female, Humans, Adolescent, Male, Flecainide, Incidence, Cross-Over Studies, Tachycardia, Ventricular, Adrenergic beta-Antagonists, Defibrillators, Implantable, Death, Sudden, Cardiac

وصف الملف: application/pdf

Relation: qt8q02z3r9; https://escholarship.org/uc/item/8q02z3r9

الاتاحة: https://escholarship.org/uc/item/8q02z3r9

المؤلفون: Hasegawa, Kanae, Fukuoka, Yoshitomo, Ohno, Seiko, Horie, Minoru, Tada, Hiroshi

المصدر: Journal of Arrhythmia ; volume 39, issue 2, page 227-230 ; ISSN 1880-4276 1883-2148

الاتاحة: http://dx.doi.org/10.1002/joa3.12817
https://onlinelibrary.wiley.com/doi/pdf/10.1002/joa3.12817
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/joa3.12817

المؤلفون: Iwamoto, Kumi, Yamamoto, Masaki, Yamamoto, Atsushi, Sai, Toshi, Mukai, Toshiko, Miura, Noriko, Kozono, Haruhisa, Onishi, Shigeki, Ohno, Seiko, Iwamoto, Nobuki, Matsumura, Yasufumi, Nagao, Miki, Urata, Yoji

المصدر: Journal of Medical Case Reports ; volume 17, issue 1 ; ISSN 1752-1947

الاتاحة: http://dx.doi.org/10.1186/s13256-023-03913-1
https://link.springer.com/content/pdf/10.1186/s13256-023-03913-1.pdf
https://link.springer.com/article/10.1186/s13256-023-03913-1/fulltext.html

المؤلفون: Aizawa, Takanori, Wada, Yuko, Hasegawa, Kanae, Huang, Hai, Imamura, Tomohiko, Gao, Jingshan, Kashiwa, Asami, Kohjitani, Hirohiko, Fukuyama, Megumi, Kato, Koichi, Kato, Eri Toda, Hisamatsu, Takashi, Ohno, Seiko, Makiyama, Takeru, Kimura, Takeshi, Horie, Minoru

المساهمون: Ministry of Health, Labor and Welfare of Japan, for Clinical Research on Intractable Disease, MEXT KAKENHI, Heart Rhythm Society, American Heart Association

المصدر: EP Europace ; volume 25, issue 4, page 1491-1499 ; ISSN 1099-5129 1532-2092

الاتاحة: http://dx.doi.org/10.1093/europace/euac269
https://academic.oup.com/europace/article-pdf/25/4/1491/49919599/euac269.pdf

المؤلفون: O’Neill, Matthew J., Sala, Luca, Denjoy, Isabelle, Wada, Yuko, Kozek, Krystian, Crotti, Lia, Dagradi, Federica, Kotta, Maria-Christina, Spazzolini, Carla, Leenhardt, Antoine, Salem, Joe-Elie, Kashiwa, Asami, Ohno, Seiko, Tao, Ran, Roden, Dan M., Horie, Minoru, Extramiana, Fabrice, Schwartz, Peter J., Kroncke, Brett M.

المساهمون: H2020 Marie Skłodowska-Curie Actions, Fondation Leducq, Fondazione Cariplo, National Institutes of Health, Ministero della Salute, Foundation for Cardiovascular Research, American Heart Association

المصدر: Genetics in Medicine ; volume 25, issue 3, page 100355 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.12.002
https://api.elsevier.com/content/article/PII:S1098360022010607?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022010607?httpAccept=text/plain

المؤلفون: Peltenburg, Puck J., Kallas, Dania, Bos, Johan M., Lieve, Krystien V. V., Franciosi, Sonia, Roston, Thomas M., Denjoy, Isabelle, Sorensen, Katrina B., Ohno, Seiko, Roses-Noguer, Ferran, Aiba, Takeshi, Maltret, Alice, Lapage, Martin J., Atallah, Joseph, Giudicessi, John R., Clur, Sally-Ann B., Blom, Nico A., Tanck, Michael, Extramiana, Fabrice, Kato, Koichi, Barc, Julien, Borggrefe, Martin, Behr, Elijah R., Sarquella-Brugada, Georgia, Tfelt-Hansen, Jacob, Zorio, Esther, Swan, Heikki, Kammeraad, Janneke A. E., Krahn, Andrew D., Davis, Andrew, Sacher, Frederic, Schwartz, Peter J., Roberts, Jason D., Skinner, Jonathan R., van den Berg, Maarten P., Kannankeril, Prince J., Drago, Fabrizio, Robyns, Tomas, Haugaa, Kristina, Tavacova, Terezia, Semsarian, Christopher, Till, Jan, Probst, Vincent, Brugada, Ramon, Shimizu, Wataru, Horie, Minoru, Leenhardt, Antoine, Ackerman, Michael J., Sanatani, Shubhayan, van der Werf, Christian, Wilde, Arthur A. M.

المصدر: Peltenburg , P J , Kallas , D , Bos , J M , Lieve , K V V , Franciosi , S , Roston , T M , Denjoy , I , Sorensen , K B , Ohno , S , Roses-Noguer , F , Aiba , T , Maltret , A , Lapage , M J , Atallah , J , Giudicessi , J R , Clur , S-A B , Blom , N A , Tanck , M , Extramiana , F , Kato , K , Barc , J , Borggrefe , M , Behr ....

الاتاحة: https://research.vumc.nl/en/publications/7fba384e-835d-4e4f-9b78-85ec057d1ee3
https://doi.org/10.1161/CIRCULATIONAHA.121.056018
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85123968702&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/34874747

المؤلفون: Wilde, Arthur A M, Semsarian, Christopher, Márquez, Manlio F, Sepehri Shamloo, Alireza, Ackerman, Michael J, Ashley, Euan A, Sternick, Eduardo Back, Barajas-Martinez, Héctor, Behr, Elijah R, Bezzina, Connie R, Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H, Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz-Genga, Martín, Sacilotto, Luciana, Schulze-Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S, Winlaw, David S, Kaufman, Elizabeth S, Aiba, Takeshi, Bollmann, Andreas, Choi, Jong-Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D, MacIntyre, Ciorsti, Mackall, Judith A, Mont, Lluís, Napolitano, Carlo, Ochoa, Juan Pablo, Peichl, Petr, Pereira, Alexandre C, Schwartz, Peter J, Skinner, Jon, Stellbrink, Christoph, Tfelt-Hansen, Jacob, Deneke, Thomas

مصطلحات موضوعية: Atrial Fibrillation, Asia, Consensus, Genetic Testing, Humans, Latin America

Relation: Heart Rhythm. 2022 Jul;19(7): e1-e60; http://hdl.handle.net/20.500.12105/15754; Heart rhythm

الاتاحة: https://hdl.handle.net/20.500.12105/15754
https://doi.org/10.1016/j.hrthm.2022.03.1225

المؤلفون: Ozawa, Junichi, Ohno, Seiko, Melgari, Dario, Fukuyama, Megumi, Toyoda, Futoshi, Makiyama, Takeru, Yoshinaga, Masao, Suzuki, Hiroshi, Saitoh, Akihiko, Ai, Tomohiko, Horie, Minoru

المساهمون: Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Genetics, Cardiology, Syndactyly

وصف الملف: application/pdf

Relation: Scientific Reports; Ozawa J, Ohno S, Melgari D, et al. Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly. Sci Rep. 2022;12(1):18984. Published 2022 Nov 8. doi:10.1038/s41598-022-23512-2; https://hdl.handle.net/1805/35861

الاتاحة: https://hdl.handle.net/1805/35861

المؤلفون: Wilde, Arthur A.M., Semsarian, Christopher, Márquez, Manlio F., Shamloo, Alireza Sepehri, Ackerman, Michael J., Ashley, Euan A., Sternick, Eduardo Back, Barajas-Martinez, Héctor, Behr, Elijah R., Bezzina, Connie R., Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H., Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz-Genga, Martín, Sacilotto, Luciana, Schulze-Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S., Winlaw, David S., Kaufman, Elizabeth S., Aiba, Takeshi, Bollmann, Andreas, Choi, Jong Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D., MacIntyre, Ciorsti, Mackall, Judith A., Mont, Lluís, Napolitano, Carlo, Ochoa, Juan Pablo, Peichl, Petr, Pereira, Alexandre C., Schwartz, Peter J., Skinner, Jon, Stellbrink, Christoph, Tfelt-Hansen, Jacob, Deneke, Thomas

المصدر: Wilde , A A M , Semsarian , C , Márquez , M F , Shamloo , A S , Ackerman , M J , Ashley , E A , Sternick , E B , Barajas-Martinez , H , Behr , E R , Bezzina , C R , Breckpot , J , Charron , P , Chockalingam , P , Crotti , L , Gollob , M H , Lubitz , S , Makita , N , Ohno , S , Ortiz-Genga , M , Sacilotto , L , Schulze-Bahr , E , Shimizu , W , Sotoodehnia ....

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/european-heart-rhythm-association-ehraheart-rhythm-society-hrsasia-pacific-heart-rhythm-society-aphrslatin-american-heart-rhythm-society-lahrs-expert-consensus-statement-on-the-state-of-genetic-testing-for-cardiac-diseases(9eaab752-9055-4dee-b994-712627194246).html
https://doi.org/10.1093/europace/euac030
https://curis.ku.dk/ws/files/320102888/euac030_1_.pdf

المؤلفون: Kurebayashi, Nagomi, Murayama, Takashi, Ota, Ryosaku, Suzuki, Junji, Kanemaru, Kazunori, Kobayashi, Takuya, Ohno, Seiko, Horie, Minoru, Iino, Masamitsu, Yamashita, Fumiyoshi, Sakurai, Takashi

المساهمون: Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development, Basis for Supporting Innovative Drug Discovery and Life Science Research, National Center of Neurology and Psychiatry, Vehicle Racing Commemorative Foundation

المصدر: Journal of General Physiology ; volume 154, issue 9 ; ISSN 0022-1295 1540-7748

الاتاحة: http://dx.doi.org/10.1085/jgp.202112869
https://rupress.org/jgp/article-pdf/doi/10.1085/jgp.202112869/1456803/jgp_202112869.pdf