المؤلفون: Jeanne, M, Demory, H, Moutal, A, Vuillaume, ML, Blesson, S, Thepault, RA, Marouillat, S, Halewa, J, Maas, SM, Motazacker, MM, Mancini, GMS, Van Slegtenhorst, MA, Andreou, A, Cox, H, Vogt, J, Laufman, J, Kostandyan, N, Babikyan, D, Hancarova, M, Bendova, S, Sedlacek, Z, Aldinger, KA, Sherr, EH, Argilli, E, England, EM, Audebert-Bellanger, S, Bonneau, D, Colin, E, Denomme-Pichon, AS, Gilbert-Dussardier, B, Isidor, B, Kury, S, Odent, S, Redon, R, Khanna, R, Dobyns, WB, Bezieau, S, Honnorat, J, Lohkamp, B, Toutain, A, Laumonnier, F

المصدر: American journal of human genetics. 108(5):951-961

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146835670

المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM

المصدر: American journal of human genetics. 104(3):530-541

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140454820

المؤلفون: Nouri, A., Autrusseau, F. ^*, Bourcier, R., Gaignard, A., L’allinec, V., Menguy, C., Véziers, J., Desal, H., Loirand, G., Redon, R.

المصدر: In Computerized Medical Imaging and Graphics September 2020 84

المؤلفون: Nouhi, A., Hajjoul, H., Redon, R., Gagné, J.P., Mounier, S.

المصدر: In Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy 15 March 2018 193:219-225

المؤلفون: Mounier, S., Nicolodelli, G., Redon, R., Milori, D.M.B.P.

المصدر: In Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy 15 April 2017 177:79-85

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المؤلفون: Le Guennec, K^{Aff1, Aff2}, Quenez, O^{Aff1, Aff2, Aff3}, Nicolas, G^{Aff1, Aff2, Aff3, Aff4}, Wallon, D^{Aff1, Aff2, Aff3, Aff5}, Rousseau, S^{Aff1, Aff2, Aff3}, Richard, A-C^{Aff1, Aff2, Aff3}, Alexander, J, Paschou, P, Charbonnier, C^{Aff1, Aff2, Aff3}, Bellenguez, C^{Aff7, Aff8, Aff9}, Grenier-Boley, B^{Aff7, Aff8, Aff9}, Lechner, D, Bihoreau, M-T, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F^{Aff10, Aff11}, Amouyel, P^{Aff7, Aff8, Aff9}, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T^{Aff1, Aff2, Aff4}, Redon, R^{Aff13, Aff14}, Letenneur, L^{Aff15, Aff16}, Dartigues, J-F^{Aff15, Aff16}, Martinaud, O^{Aff3, Aff5}, Kalev, O, Mehrabian, S, Traykov, L, Ströbel, T, Le Ber, I^{Aff20, Aff21}, Caroppo, P^{Aff20, Aff21}, Epelbaum, S^{Aff20, Aff21}, Jonveaux, T^{Aff22, Aff23}, Pasquier, F, Rollin-Sillaire, A, Génin, E, Guyant-Maréchal, L^{Aff5, Aff26}, Kovacs, G G, Lambert, J-C^{Aff7, Aff8, Aff9}, Hannequin, D^{Aff1, Aff2, Aff3, Aff4, Aff5}, Campion, D^{Aff1, Aff2, Aff3, Aff27, IDmp2016226_cor42}, Rovelet-Lecrux, A^{Aff1, Aff2, Aff3, IDmp2016226_cor43}

المصدر: Molecular Psychiatry. 22(8):1119-1125

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

مصطلحات الفهرس: ACMG/AMP guideline, Brugada, LQTS, variant interpretation, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/298050
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

المؤلفون: Bakker, M. K., van der Spek, R. A. A., van Rheenen, W., Morel, S., Bourcier, R., Hostettler, I. C., Alg, V. S., van Eijk, K. R., Koido, M., Akiyama, M., Terao, C., Matsuda, K., Walters, R. G., Lin, K., Li, L. M., Millwood, I. Y., Chen, Z. M., Rouleau, G. A., Zhou, S. R., Rannikmae, K., Sudlow, C. L. M., Houlden, H., van den Berg, L. H., Dina, C., Naggara, O., Gentric, J. C., Shotar, E., Eugene, F., Desal, H., Winsvold, B. S., Borte, S., Johnsen, M. B., Brumpton, B., Sandvei, M. S., Willer, C. J., Hveem, K., Zwart, J. A., Verschuren, W. M. M., Friedrich, C. M., Hirsch, S., Schilling, S., Dauvillier, J. M., Martin, O., Brumpton, B. M., Bian, Z., Chen, J. S., Chen, Y. P., Clarke, R., Collins, R., Guo, Y., Han, X., Hill, M., Liu, D. P., Lv, J., Millwood, I., Peto, R., Sansome, S., Walters, R., Yang, X. M., Yu, C. Q., Kamatani, Y., Redon, R., Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Debette, S., Werring, D. J., Bonner, S., Walsh, D., Bulters, D., Kitchen, N., Brown, M., Grieve, J., Malik, R., Dichgans, M., Sargurupremraj, M., Tatlisumak, T., Rinkel, G. J. E., Worrall, B. B., Pera, J., Slowik, A., Broderick, J. P., Woo, D., Bijlenga, P., Ruigrok, Y. M., Jones, G. T., Bown, M. J., Ko, N. E. U., Kim, H., Coleman, J. R. I., Breen, G., Zaroff, J. G., Klijn, C. J. M., Amouyel, P., Gaal-Paavola, E. I., Niemela, M., Jaaskelainen, J. E., Zu Fraunberg, M. V., Lindgren, A., Veldink, J. H.

المصدر: Nature Genetics. 52(12):1303-1313

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, ld score regression, subarachnoid hemorrhage, gwas, metaanalysis, sex, heritability, variants, smoking, patient, growth, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/300001