المؤلفون: TSUNETSUGUYOKOTA, Y, AKAGAWA, K, KIMOTO, H, SUZUKI, K, IWASAKI, M, YASUDA, S, HAUSSER, G, HULTGREN, C, MEYERHANS, A, TAKEMORI, T

المصدر: Journal of virology. 69(7):4544-4547

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:113039924Test

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

العلاقة: 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/2318/1766442Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596; https://www.nature.com/articles/s41436-020-00946-5Test

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

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

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docxTest; 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/s41436-020-00946-5Test SGUL Authors: Behr, Elijah Raphael Papadakis, Michael Sharma, Sanjay Sheppard, Mary Noelle

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
https://openaccess.sgul.ac.uk/id/eprint/112371Test/
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docxTest

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, BM, Bezieau, 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, Ortuno, 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, Morner, 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, Kaeaeb, 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, Behr, ER, Barc, J, Bezzina, CR

المصدر: Genetics in Medicine (2020) (In press).

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

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10112002Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10112002Test/

المؤلفون: Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic 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 JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, 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-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia

المصدر: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, LQTS, variant interpretation, cardiovascular diseases, Brugada, ACMG/AMP guidelines

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68Test
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdfTest

المؤلفون: Yoshikoshi, K., Umezawa, K., Kitagawa, M., Matsumoto, J., Kimoto, H., Hishitani, T.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 38, issue S1, page 183-183 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.9666Test

المؤلفون: Yoshikoshi, K., Umezawa, K., Kitagawa, M., Matsumoto, J., Kimoto, H., Hishitani, T., Taketazu, M., Itakura, A., Kawataki, M., Baba, K.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 36, issue S1, page 195-195 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.8401Test

المؤلفون: Kimoto, H.

المصدر: Chemical Senses ; volume 30, issue Supplement 1, page i146-i147 ; ISSN 0379-864X 1464-3553

مصطلحات موضوعية: Behavioral Neuroscience, Physiology (medical), Sensory Systems, Physiology

الإتاحة: https://doi.org/10.1093/chemse/bjh156Test
http://academic.oup.com/chemse/article-pdf/30/suppl_1/i146/753878/bjh156.pdfTest

المؤلفون: Kimoto, H., Kurisaki, J., Tsuji, N. M., Ohmomo, S., Okamoto, T.

المصدر: Letters in Applied Microbiology ; volume 29, issue 5, page 313-316 ; ISSN 0266-8254 1365-2673

مصطلحات موضوعية: Applied Microbiology and Biotechnology

الإتاحة: https://doi.org/10.1046/j.1365-2672.1999.00627.xTest

المؤلفون: Baba, M, Kikuchi, Y, Mori, S, Kimoto, H, Inui, S, Sakaguchi, N, Inoue, J, Yamamoto, T, Takemori, T, Howard, M, Takatsu, K

مصطلحات موضوعية: Articles

وصف الملف: text/html

العلاقة: http://intimm.oxfordjournals.org/cgi/content/short/9/10/1463Test; http://dx.doi.org/10.1093/intimm/9.10.1463Test

الإتاحة: https://doi.org/10.1093/intimm/9.10.1463Test
http://intimm.oxfordjournals.org/cgi/content/short/9/10/1463Test