المؤلفون: Crotti, L, Spazzolini, C, Nyegaard, M, Overgaard, MT, Kotta, MC, Dagradi, F, Sala, L, Aiba, T, Ayers, MD, Baban, A, Barc, J, Beach, CM, Behr, ER, Bos, JM, Cerrone, M, Covi, P, Cuneo, B, Denjoy, I, Donner, B, Elbert, A, Eliasson, H, Etheridge, SP, Fukuyama, M, Girolami, F, Hamilton, R, Horie, M, Iascone, M, Jaimez, JJ, Jensen, HK, Kannankeril, PJ, Kaski, JP, Makita, N, Munoz-Esparza, C, Odland, HH, Ohno, S, Papagiannis, J, Porretta, AP, Prandstetter, C, Probst, V, Robyns, T, Rosenthal, E, Roses-Noguer, F, Sekarski, N, Singh, A, Spentzou, G, Stute, F, Tfelt-Hansen, J, Till, J, Tobert, KE, Vinocur, JM, Webster, G, Wilde, AAM, Wolf, CM, Ackerman, MJ, Schwartz, PJ

المصدر: European heart journal. 44(35):3357-3370

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:153391881

المؤلفون: Peltenburg, PJ, Kallas, D, Bos, JM, Lieve, KVV, Franciosi, S, Roston, TM, Denjoy, I, Sorensen, KB, Ohno, S, Roses-Noguer, F, Aiba, T, Maltret, A, LaPage, MJ, Atallah, J, Giudicessi, JR, Clur, SAB, Blom, NA, Tanck, M, Extramiana, F, Kato, K, Barc, J, Borggrefe, M, Behr, ER, Sarquella-Brugada, G, Tfelt-Hansen, J, Zorio, E, Swan, H, Kammeraad, JAE, Krahn, AD, Davis, A, Sacher, F, Schwartz, PJ, Roberts, JD, Skinner, JR, van den Berg, MP, Kannankeril, PJ, Drago, F, Robyns, T, Haugaa, K, Tavacova, T, Semsarian, C, Till, J, Probst, V, Brugada, R, Shimizu, W, Horie, M, Leenhardt, A, Ackerman, MJ, Sanatani, S, van der Werf, C, Wilde, AAM

المصدر: Circulation. 145(5):333-344

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149336231

المؤلفون: Peltenburg, PJ, van den Heuvel, LM, Kallas, D, Bell, C, Denjoy, I, Behr, ER, Field, E, Kammeraad, JAE, Yap, S-C, Probst, V, Ackerman, MJ, Blom, NA, Wilde, AAM, Clur, S-AB, van der Werf, C

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/116230/6/euae044.pdf; https://openaccess.sgul.ac.uk/id/eprint/116230/11/euae044_supplementary_data.pdf; https://openaccess.sgul.ac.uk/id/eprint/116230/1/euae044.pdf; Peltenburg, PJ; van den Heuvel, LM; Kallas, D; Bell, C; Denjoy, I; Behr, ER; Field, E; Kammeraad, JAE; Yap, S-C; Probst, V; et al. Peltenburg, PJ; van den Heuvel, LM; Kallas, D; Bell, C; Denjoy, I; Behr, ER; Field, E; Kammeraad, JAE; Yap, S-C; Probst, V; Ackerman, MJ; Blom, NA; Wilde, AAM; Clur, S-AB; van der Werf, C (2024) Insights into adherence to medication and lifestyle recommendations in an international cohort of patients with catecholaminergic polymorphic ventricular tachycardia. Europace, 26 (2). euae044. ISSN 1532-2092 https://doi.org/10.1093/europace/euae044 SGUL Authors: Behr, Elijah Raphael

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116230/
https://openaccess.sgul.ac.uk/id/eprint/116230/6/euae044.pdf
https://openaccess.sgul.ac.uk/id/eprint/116230/11/euae044_supplementary_data.pdf
https://openaccess.sgul.ac.uk/id/eprint/116230/1/euae044.pdf
https://doi.org/10.1093/europace/euae044

المؤلفون: Javaudin, François, Bougouin, Wulfran, Fanet, Lucie, Diehl, Jean-Luc, Jost, Daniel, Beganton, Frankie, Empana, Jean-Philippe, Jouven, Xavier, Adnet, Frédéric, Lamhaut, Lionel, Lascarrou, Jean-Baptiste, Cariou, Alain, Dumas, Florence, Adnet, F., Agostinucci, J. M., Aissaoui-Balanant, N., Algalarrondo, V., Alla, F., Alonso, C., Amara, W., Annane, D., Antoine, C., Aubry, P., Azoulay, E., Beganton, F., Billon, C., Bougouin, W., Boutet, J., Bruel, C., Bruneval, P., Cariou, A., Carli, P., Casalino, E., Cerf, C., Chaib, A., Cholley, B., Cohen, Y., Combes, A., Coulaud, J. M., Crahes, M., Da Silva, D., Das, V., Demoule, A., Denjoy, I., Deye, N., Diehl, J. L., Dinanian, S., Domanski, L., Dreyfuss, D., Duboc, D.

المصدر: Critical Care ; volume 27, issue 1 ; ISSN 1364-8535

الاتاحة: http://dx.doi.org/10.1186/s13054-023-04776-0
https://link.springer.com/content/pdf/10.1186/s13054-023-04776-0.pdf
https://link.springer.com/article/10.1186/s13054-023-04776-0/fulltext.html

المؤلفون: Binois, Yannick, Renaudier, Marie, Dumas, Florence, Youssfi, Younès, Beganton, Frankie, Jost, Daniel, Lamhaut, Lionel, Marijon, Eloi, Jouven, Xavier, Cariou, Alain, Bougouin, Wulfran, Adnet, F., Agostinucci, J. M., Aissaoui-Balanant, N., Algalarrondo, V., Alla, F., Alonso, C., Amara, W., Annane, D., Antoine, C., Aubry, P., Azoulay, E., Beganton, F., Billon, C., Bougouin, W., Boutet, J., Bruel, C., Bruneval, P., Cariou, A., Carli, P., Casalino, E., Cerf, C., Chaib, A., Cholley, B., Cohen, Y., Combes, A., Coulaud, J. M., Crahes, M, Da Silva, D., Das, V., Demoule, A., Denjoy, I., Deye, N., Diehl, J. L., Dinanian, S., Domanski, L., Dreyfuss, D., Duboc, D., Dubois-Rande, J. L., Dumas, F.

المصدر: Annals of Intensive Care ; volume 13, issue 1 ; ISSN 2110-5820

الاتاحة: http://dx.doi.org/10.1186/s13613-023-01143-8
https://link.springer.com/content/pdf/10.1186/s13613-023-01143-8.pdf
https://link.springer.com/article/10.1186/s13613-023-01143-8/fulltext.html

المؤلفون: Laporte, P, Vaglio, M, Denjoy, I, Maison-Blanche, P, Badilini, F, Leenhardt, A, Extramiana, F

المصدر: Europace ; volume 25, issue Supplement_1 ; ISSN 1099-5129 1532-2092

الاتاحة: https://doi.org/10.1093/europace/euad122.275
https://academic.oup.com/europace/article-pdf/25/Supplement_1/euad122.275/50428700/euad122.275.pdf

المؤلفون: Lascarrou, Jean Baptiste, Dumas, Florence, Bougouin, Wulfran, Legriel, Stephane, Aissaoui, Nadia, Deye, Nicolas, Beganton, Frankie, Lamhaut, Lionel, Jost, Daniel, Vieillard-Baron, Antoine, Nichol, Graham, Marijon, Eloi, Jouven, Xavier, Cariou, Alain, Adnet, F., Agostinucci, J.M., Aissaoui-Balanant, N., Algalarrondo, V., Alla, F., Alonso, C., Amara, W., Annane, D., Antoine, C., Aubry, P., Azoulay, E., Beganton, F., Billon, C., Bougouin, W., Boutet, J., Bruel, C., Bruneval, P., Cariou, A., Carli, P., Casalino, E., Cerf, C., Chaib, A., Cholley, B., Cohen, Y., Combes, A., Coulaud, J.M., Da Silva, D., Das, V., Demoule, A., Denjoy, I., Deye, N., Diehl, J.L., Dinanian, S., Domanski, L., Dreyfuss, D., Dubois-Rande, J.L.

المصدر: Chest ; volume 163, issue 5, page 1120-1129 ; ISSN 0012-3692

الاتاحة: http://dx.doi.org/10.1016/j.chest.2022.10.023
https://api.elsevier.com/content/article/PII:S0012369222040375?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0012369222040375?httpAccept=text/plain

المؤلفون: Renaudier, M., Binois, Y., Dumas, F., Lamhaut, L., Beganton, F., Jost, D., Charpentier, J., Lesieur, O., Marijon, E., Jouven, X., Cariou, A., Bougouin, W., Adnet, F., Agostinucci, J. M., Aissaoui-Balanant, N., Algalarrondo, V., Alla, F., Alonso, C., Amara, W., Annane, D., Antoine, C., Aubry, P., Azoulay, E., Billon, C., Boutet, J., Bruel, C., Bruneval, P., Carli, P., Casalino, E., Cerf, C., Chaib, A., Cholley, B., Cohen, Y., Combes, A., Coulaud, J. M., Crahes, M., Da Silva, D., Das, V., Demoule, A., Denjoy, I., Deye, N., Diehl, J. L., Dinanian, S., Domanski, L., Dreyfuss, D., Duboc, D., Dubois-Rande, J. L.

المصدر: Annals of Intensive Care ; volume 12, issue 1 ; ISSN 2110-5820

الاتاحة: http://dx.doi.org/10.1186/s13613-022-01023-7
https://link.springer.com/content/pdf/10.1186/s13613-022-01023-7.pdf
https://link.springer.com/article/10.1186/s13613-022-01023-7/fulltext.html

المؤلفون: Morgat, C, Denjoy, I, Fressart, V, Badilini, F, Vaglio, M, Messali, A, Maison-Blanche, P, Leenhardt, A, Extramiana, F

المصدر: EP Europace ; volume 24, issue Supplement_1 ; ISSN 1099-5129 1532-2092

الاتاحة: https://doi.org/10.1093/europace/euac053.555
https://academic.oup.com/europace/article-pdf/24/Supplement_1/euac053.555/43769773/euac053.555.pdf

المؤلفون: Extramiana, F., Denjoy, I., Morgat, C., Messali, A., Zouaghi, A., Algalarrondo, V., Leenhardt, A.

المصدر: Archives des Maladies du Coeur et des Vaisseaux - Pratique ; volume 2022, issue 308, page 11-19 ; ISSN 1261-694X

الاتاحة: http://dx.doi.org/10.1016/j.amcp.2022.03.005
https://api.elsevier.com/content/article/PII:S1261694X22000815?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1261694X22000815?httpAccept=text/plain

المؤلفون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R.

المساهمون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P.G., Amin A.S., Nannenberg E.A., Ware J.S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B.M., Bezieau S., Bos J.M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P.T., Ortuno C.G., Giustetto C., Gourraud J.-B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J.K., Kimoto H., Kotta M.-C., Krapels I.P.C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B.L., Lundin C., Makiyama T., Mansourati J., Martins R.P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M.S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M.N., Shimamoto K., Shoemaker M.B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D.J., Usuda K., van der Zwaag P.A., Van Dooren S., Van Laer L., Winbo A., Winkel B.G., Yamagata K., Zumhagen S., Volders P.G.A., Lubitz S.A., Antzelevitch C., Platonov P.G., Odening K.E., Roden D.M., Roberts J.D., Skinner J.R., Tfelt-Hansen J., van den Berg M.P., Olesen M.S., Lambiase P.D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J.B., Kaab S., Brugada P., Robyns T., Giachino D.F.

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

Relation: info:eu-repo/semantics/altIdentifier/pmid/32893267; info:eu-repo/semantics/altIdentifier/wos/WOS:000566661000001; volume:23; issue:1; firstpage:47; lastpage:58; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1766442; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596; https://www.nature.com/articles/s41436-020-00946-5

الاتاحة: http://hdl.handle.net/2318/1766442
https://doi.org/10.1038/s41436-020-00946-5
https://www.nature.com/articles/s41436-020-00946-5

المؤلفون: Kozek K., Wada Y., Sala L., Denjoy I., Egly C., O'Neill M. J., Aiba T., Shimizu W., Makita N., Ishikawa T., Crotti L., Spazzolini C., Kotta M. -C., Dagradi F., Castelletti S., Pedrazzini M., Gnecchi M., Leenhardt A., Salem J. -E., Ohno S., Zuo Y., Glazer A. M., Mosley J. D., Roden D. M., Knollmann B. C., Blume J. D., Extramiana F., Schwartz P. J., Horie M., Kroncke B. M.

المساهمون: Kozek, K, Wada, Y, Sala, L, Denjoy, I, Egly, C, O'Neill, M, Aiba, T, Shimizu, W, Makita, N, Ishikawa, T, Crotti, L, Spazzolini, C, Kotta, M, Dagradi, F, Castelletti, S, Pedrazzini, M, Gnecchi, M, Leenhardt, A, Salem, J, Ohno, S, Zuo, Y, Glazer, A, Mosley, J, Roden, D, Knollmann, B, Blume, J, Extramiana, F, Schwartz, P, Horie, M, Kroncke, B

مصطلحات موضوعية: genetic variation, heterozygote, ion channel, long QT syndrome, phenotype

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34309407; info:eu-repo/semantics/altIdentifier/wos/WOS:000686019100005; volume:14; issue:4; firstpage:495; lastpage:505; numberofpages:11; journal:CIRCULATION; http://hdl.handle.net/10281/390668; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113773646

الاتاحة: http://hdl.handle.net/10281/390668
https://doi.org/10.1161/CIRCGEN.120.003289

المؤلفون: O'Neill, M, Sala, L, Denjoy, I, Wada, Y, Kozek, K, Crotti, L, Dagradi, F, Kotta, M, Spazzolini, C, Leenhardt, A, Salem, J, Kashiwa, A, Ohno, S, Tao, R, Roden, D, Horie, M, Extramiana, F, Schwartz, P, Kroncke, B, O'Neill M. J., Sala L., Denjoy I., Wada Y., Kozek K., Crotti L., Dagradi F., Kotta M. -C., Spazzolini C., Leenhardt A., Salem J. -E., Kashiwa A., Ohno S., Tao R., Roden D. M., Horie M., Extramiana F., Schwartz P. J., Kroncke B. M.

مصطلحات الفهرس: Channelopathy, Incomplete Penetrance, Long QT Syndrome, Personalized Medicine, Statistical Genetic, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/467709
info:eu-repo/semantics/altIdentifier/pmid/36496179
info:eu-repo/semantics/altIdentifier/wos/WOS:000925286200001
volume:25
issue:3 (March 2023)
journal:GENETICS IN MEDICINE

المؤلفون: Morgat, C., Fressart, V., Porretta, A.P., Neyroud, N., Messali, A., Temmar, Y., Algalarrondo, V., Surget, E., Bloch, A., Leenhardt, A., Denjoy, I., Extramiana, F.

المصدر: Europace, vol. 26, no. 6

مصطلحات موضوعية: Humans, KCNQ1 Potassium Channel/genetics, Female, Male, Risk Assessment, Romano-Ward Syndrome/genetics, Romano-Ward Syndrome/physiopathology, Romano-Ward Syndrome/diagnosis, Risk Factors, Child, Electrocardiography, Preschool, Heterozygote, Mutation, Jervell-Lange Nielsen Syndrome/genetics, Jervell-Lange Nielsen Syndrome/physiopathology, Genetic Predisposition to Disease, Infant, Adult, Adolescent, Phenotype, Retrospective Studies, Death, Sudden, Cardiac/etiology, Young Adult, Incidence, KCNQ1, Heterozygous carriers, Jervell and Lange–Nielsen syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/38825991; info:eu-repo/semantics/altIdentifier/eissn/1532-2092; https://serval.unil.ch/notice/serval:BIB_91AED6A4F57A

الاتاحة: https://serval.unil.ch/notice/serval:BIB_91AED6A4F57A
https://doi.org/10.1093/europace/euae136

المؤلفون: Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR.

المساهمون: Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P

مصطلحات موضوعية: genome-wide association study, inheritance pattern, long QT syndrome, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA, MED/01 - STATISTICA MEDICA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32429735; info:eu-repo/semantics/altIdentifier/wos/WOS:000562745400012; volume:142; issue:4; firstpage:324; lastpage:338; numberofpages:15; journal:CIRCULATION; http://hdl.handle.net/10281/298086; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088849122

الاتاحة: http://hdl.handle.net/10281/298086
https://doi.org/10.1161/CIRCULATIONAHA.120.045956

المؤلفون: Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., Behr E. R.

المساهمون: Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E

مصطلحات موضوعية: Brugada syndrome, genetics, human, penetrance, phenotype, risk score, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33164571; info:eu-repo/semantics/altIdentifier/wos/WOS:000598974000004; volume:13; issue:6; firstpage:599; lastpage:608; numberofpages:10; journal:CIRCULATION; http://hdl.handle.net/10281/298048; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097964476

الاتاحة: http://hdl.handle.net/10281/298048
https://doi.org/10.1161/CIRCGEN.120.002911

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Škorić-Milosavljević, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, BM, Bézieau, S, Bos, JM, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, PT, Ortuño, CG, Giustetto, C, Gourraud, J-B, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, JK, Kimoto, H, Kotta, M-C, Krapels, IPC, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, BL, Lundin, C, Makiyama, T, Mansourati, J, Martins, RP, Mazzanti, A, Mörner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, MS, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, MN, Shimamoto, K, Shoemaker, MB, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, DJ, Usuda, K, van der Zwaag, PA, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, BG, Yamagata, K, Zumhagen, S, Volders, PGA, Lubitz, SA, Antzelevitch, C, Platonov, PG, Odening, KE, Roden, DM, Roberts, JD, Skinner, JR, Tfelt-Hansen, J, van den Berg, MP, Olesen, MS, Lambiase, PD, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, JB, Kääb, S, Brugada, P, Robyns, T, Giachino, DF, Ackerman, MJ, Brugada, R, Brugada, J, Gimeno, JR, Hasdemir, C, Guicheney, P, Priori, SG, Schulze-Bahr, E, Makita, N, Schwartz, PJ, Shimizu, W, Aiba, T, Schott, J-J, Redon, R, Ohno, S, Probst, V, Nantes Referral Center for inherited cardiac arrhythmia, Behr, ER, Barc, J, Bezzina, CR

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf; https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx; Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; et al. Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; Mazzarotto, F; Škorić-Milosavljević, D; Krijger, C; Arbelo, E; Babuty, D; Barajas-Martinez, H; Beckmann, BM; Bézieau, S; Bos, JM; Breckpot, J; Campuzano, O; Castelletti, S; Celen, C; Clauss, S; Corveleyn, A; Crotti, L; Dagradi, F; de Asmundis, C; Denjoy, I; Dittmann, S; Ellinor, PT; Ortuño, CG; Giustetto, C; Gourraud, J-B; Hazeki, D; Horie, M; Ishikawa, T; Itoh, H; Kaneko, Y; Kanters, JK; Kimoto, H; Kotta, M-C; Krapels, IPC; Kurabayashi, M; Lazarte, J; Leenhardt, A; Loeys, BL; Lundin, C; Makiyama, T; Mansourati, J; Martins, RP; Mazzanti, A; Mörner, S; Napolitano, C; Ohkubo, K; Papadakis, M; Rudic, B; Molina, MS; Sacher, F; Sahin, H; Sarquella-Brugada, G; Sebastiano, R; Sharma, S; Sheppard, MN; Shimamoto, K; Shoemaker, MB; Stallmeyer, B; Steinfurt, J; Tanaka, Y; Tester, DJ; Usuda, K; van der Zwaag, PA; Van Dooren, S; Van Laer, L; Winbo, A; Winkel, BG; Yamagata, K; Zumhagen, S; Volders, PGA; Lubitz, SA; Antzelevitch, C; Platonov, PG; Odening, KE; Roden, DM; Roberts, JD; Skinner, JR; Tfelt-Hansen, J; van den Berg, MP; Olesen, MS; Lambiase, PD; Borggrefe, M; Hayashi, K; Rydberg, A; Nakajima, T; Yoshinaga, M; Saenen, JB; Kääb, S; Brugada, P; Robyns, T; Giachino, DF; Ackerman, MJ; Brugada, R; Brugada, J; Gimeno, JR; Hasdemir, C; Guicheney, P; Priori, SG; Schulze-Bahr, E; Makita, N; Schwartz, PJ; Shimizu, W; Aiba, T; Schott, J-J; Redon, R; Ohno, S; Probst, V; Nantes Referral Center for inherited cardiac arrhythmia; Behr, ER; Barc, J; Bezzina, CR (2021) Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med, 23 (1). pp. 47-58. ISSN 1530-0366 https://doi.org/10.1038/s41436-020-00946-5 SGUL Authors: Behr, Elijah Raphael Papadakis, Michael Sharma, Sanjay Sheppard, Mary Noelle

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112371/
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx

المؤلفون: Weizman, Orianne, Sharifzadehgan, Ardalan, Bougouin, Wulfran, Narayanan, Kumar, Tence, Noémie, Dumas, Florence, Waldmann, Victor, Lamhaut, Lionel, Jost, Daniel, Wahbi, Karim, Varenne, Olivier, Garcia, Rodrigue, Karam, Nicole, Cariou, Alain, Jouven, Xavier, Marijon, Eloi, Agostinucci, JM, Algalarrondo, V, Alla, F, Alonso, C, Amara, W, Annane, D, Antoine, C, Aubry, P, Azoulay, E, Beganton, F, Benhamou, D, Billon, C, Bougouin, W, Boutet, J, Bruel, C, Bruneval, P, Cariou, A, Carli, P, Casalino, E, Cerf, C, Chaib, A, Cholley, B, Cohen, Y, Combes, A, Coulaud, JM, Crahes, M, Da Silva, D, Das, V, Demoule, A, Denjoy, I, Deye, N, Dhonneur, G, Diehl, JL, Dinanian, S

المصدر: Circulation ; volume 143, issue 7, page 758-760 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/circulationaha.120.052219
https://www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.120.052219

المؤلفون: Ribeiro de Oliveira Mendes, B.B., Feliciangeli, S., Menard, M., Chatelain, F., Montnach, J., Nicolas, S., Ollivier, B., Baro, I., Schott, J., Probst, V., Kyndt, F., Denjoy, I., Lesage, F., Loussouarn, G., De Waard, M.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 2, page 212-213 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2021.04.157
https://api.elsevier.com/content/article/PII:S1878648021001592?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648021001592?httpAccept=text/plain

المؤلفون: Fourme, T., Carré, F., Chevalier, P., De Groote, P., Denjoy, I., Doutreleau, S., Gandjbakhch, E., Habib, G., Hagège, A., Mansencal, N., Maupain, C., Maury, P., Probst, V., Reant, P., Sacher, F., Schnell, F., Trochu, J., Uzan, L., Charron, P.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 1, page 113 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2020.10.238
https://api.elsevier.com/content/article/PII:S1878648020304328?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648020304328?httpAccept=text/plain