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: Makita, N, Ishikawa, T, Masuda, T, Hachiya, T, Dina, C, Simonet, F, Tank, M W T, Wilde, A A, Redon, R, Bezzina, C R, Tanaka, T, Barc, J, Okada, Y, Schott, J J

المصدر: European Heart Journal ; volume 44, issue Supplement_2 ; ISSN 0195-668X 1522-9645

الاتاحة: https://doi.org/10.1093/eurheartj/ehad655.3172
https://academic.oup.com/eurheartj/article-pdf/44/Supplement_2/ehad655.3172/53590831/ehad655.3172.pdf

المؤلفون: Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Gil Ortuño C, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Gregers Winkel B, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy FC, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Al Arnaout A, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina M, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George Jr. AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR.

المصدر: Nature Genetics, 54(3), 232-239, (2022-02-24)

Relation: https://zenodo.org/communities/escape-net; https://zenodo.org/communities/eu; oai:zenodo.org:7488743

الاتاحة: https://doi.org/10.1038/s41588-021-01007-6

المؤلفون: Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J.G.J., Sims, R., Ahmad, S., Amin, N., Norsworthy, P.J., Dols-Icardo, O., Hummerich, H., Kawalia, A., Amouyel, P., Beecham, G.W., Berr, C., Bis, J.C., Boland, A., Bossù, P., Bouwman, F., Bras, J., Campion, D., Cochran, J.N., Daniele, A., Dartigues, J.-F., Debette, S., Deleuze, J.-F., Denning, N., DeStefano, A.L., Farrer, L.A., Fernández, M.V., Fox, N.C., Galimberti, D., Genin, E., Gille, J.J.P., Le Guen, Y., Guerreiro, R., Haines, J.L., Holmes, C., Ikram, M.A., Ikram, M.K., Jansen, I.E., Kraaij, R., Lathrop, M., Lemstra, A.W., Lleó, A., Luckcuck, L., Mannens, M.M.A.M., Marshall, R., Martin, E.R., Masullo, C., Mayeux, R., Mecocci, P., Meggy, A., Mol, M.O., Morgan, K., Myers, R.M., Nacmias, B., Naj, A.C., Napolioni, V., Pasquier, F., Pastor, P., Pericak-Vance, M.A., Raybould, R., Redon, R., Reinders, M.J.T., Richard, A.-C., Riedel-Heller, S.G., Rivadeneira, F., Rousseau, S., Ryan, N.S., Saad, S., Sanchez-Juan, P., Schellenberg, G.D., Scheltens, P., Schott, J.M., Seripa, D., Seshadri, S., Sie, D., Sistermans, E.A., Sorbi, S., van Spaendonk, R., Spalletta, G., Tesi, N., Tijms, B., Uitterlinden, A.G., van der Lee, S.J., Visser, P.J., Wagner, M., Wallon, D., Wang, L.-S., Zarea, A., Clarimon, J., van Swieten, J.C., Greicius, M.D., Yokoyama, J.S., Cruchaga, C., Hardy, J., Ramirez, A., Mead, S., van der Flier, W.M., van Duijn, C.M., Williams, J., Nicolas, G., Bellenguez, C., Lambert, J.-C.

المصدر: Holstege , H , Hulsman , M , Charbonnier , C , Grenier-Boley , B , Quenez , O , Grozeva , D , van Rooij , J G J , Sims , R , Ahmad , S , Amin , N , Norsworthy , P J , Dols-Icardo , O , Hummerich , H , Kawalia , A , Amouyel , P , Beecham , G W , Berr , C , Bis , J C , Boland , A , Bossù , P , Bouwman , F , Bras , J , Campion , D , Cochran ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/36b94cfe-6175-473e-a55e-0b90c14cd543
https://doi.org/10.1038/s41588-022-01208-7
https://hdl.handle.net/1871.1/36b94cfe-6175-473e-a55e-0b90c14cd543
http://www.scopus.com/inward/record.url?scp=85142346472&partnerID=8YFLogxK

المؤلفون: Küry, S, Zhang, J, Besnard, T, Caro-Llopis, A, Zeng, X, Robert, SM, Josiah, SS, Kiziltug, E, Denommé-Pichon, A-S, Cogné, B, Kundishora, AJ, Hao, LT, Li, H, Stevenson, RE, Louie, RJ, Deb, W, Torti, E, Vignard, V, McWalter, K, Raymond, FL, Rajabi, F, Ranza, E, Grozeva, D, Coury, SA, Blanc, X, Brischoux-Boucher, E, Keren, B, Õunap, K, Reinson, K, Ilves, P, Wentzensen, IM, Barr, EE, Guihard, SH, Charles, P, Seaby, EG, Monaghan, KG, Rio, M, van Bever, Y, van Slegtenhorst, M, Chung, WK, Wilson, A, Quinquis, D, Bréhéret, F, Retterer, K, Lindenbaum, P, Scalais, E, Rhodes, L, Stouffs, K, Pereira, EM, Berger, SM, Milla, SS, Jaykumar, AB, Cobb, MH, Panchagnula, S, Duy, PQ, Vincent, M, Mercier, S, Gilbert-Dussardier, B, Le Guillou, X, Audebert-Bellanger, S, Odent, S, Schmitt, S, Boisseau, P, Bonneau, D, Toutain, A, Colin, E, Pasquier, L, Redon, R, Bouman, A, Rosenfeld, JA, Friez, MJ, Pérez-Peña, H, Akhtar Rizvi, SR, Haider, S, Antonarakis, SE, Schwartz, CE, Martínez, F, Bézieau, S, Kahle, KT, Isidor, B

مصطلحات موضوعية: Exome sequencing, KCC2, Neurodevelopmental disease, WNK3, X-linked intellectual disability

Relation: Genetics in Medicine; orcid:0000-0001-8683-509X (Zhang, Jinwei); ScopusID: 24385918800 (Zhang, Jinwei); ResearcherID: N-8584-2017 (Zhang, Jinwei); Published online 9 June 2022; https://doi.org/10.1016/j.gim.2022.05.009; PRG471; IEC\NSFC\201094; R01NS073854; http://hdl.handle.net/10871/129894

الاتاحة: http://hdl.handle.net/10871/129894
https://doi.org/10.1016/j.gim.2022.05.009

المؤلفون: Morel, S., Hostettler, I.C., Spinner, G.R., Bourcier, R., Pera, J., Meling, T.R., Alg, V.S., Houlden, H., Bakker, M.K., Van't Hof, F., Rinkel, GJE, Foroud, T., Lai, D., Moomaw, C.J., Worrall, B.B., Caroff, J., Constant-Dits-Beaufils, P., Karakachoff, M., Rimbert, A., Rouchaud, A., Gaal-Paavola, E.I., Kaukovalta, H., Kivisaari, R., Laakso, A., Jahromi, B.R., Tulamo, R., Friedrich, C.M., Dauvillier, J., Hirsch, S., Isidor, N., Kulcsàr, Z., Lövblad, K.O., Martin, O., Machi, P., Mendes Pereira, V., Rüfenacht, D., Schaller, K., Schilling, S., Slowik, A., Jaaskelainen, J.E., von Und Zu Fraunberg, M., Jiménez-Conde, J., Cuadrado-Godia, E., Soriano-Tárraga, C., Millwood, I.Y., Walters, R.G., Kim, H., Redon, R., Ko, N.U., Rouleau, G.A., Lindgren, A., Niemelä, M., Desal, H., Woo, D., Broderick, J.P., Werring, D.J., Ruigrok, Y.M., Bijlenga, P.

المساهمون: The neurIST Project, The Ican Study Group, Genetics And Observational Subarachnoid Haemorrhage Gosh Study Investigators, International Stroke Genetics Consortium Isgc

المصدر: Journal of personalized medicine, vol. 12, no. 9, pp. 1410

مصطلحات موضوعية: hypertension, intracranial aneurysm, location, risk factors, smoking, subarachnoid hemorrhage

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/36143196; info:eu-repo/semantics/altIdentifier/pissn/2075-4426; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8A5C74B765112; https://serval.unil.ch/notice/serval:BIB_8A5C74B76511; https://serval.unil.ch/resource/serval:BIB_8A5C74B76511.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_8A5C74B76511
https://doi.org/10.3390/jpm12091410
https://serval.unil.ch/resource/serval:BIB_8A5C74B76511.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8A5C74B765112

المؤلفون: Brohus, M, Arsov, T, Wallace, DA, Jensen, HH, Nyegaard, M, Crotti, L, Adamski, M, Zhang, Y, Field, MA, Athanasopoulos, V, Baró, I, Ribeiro de Oliveira-Mendes, BB, Redon, R, Charpentier, F, Raju, H, DiSilvestre, D, Wei, J, Wang, R, Rafehi, H, Kaspi, A, Bahlo, M, Dick, IE, Chen, SRW, Cook, MC, Vinuesa, CG, Overgaard, MT, Schwartz, PJ.

المساهمون: Brohus, M, Arsov, T, Wallace, D, Jensen, H, Nyegaard, M, Crotti, L, Adamski, M, Zhang, Y, Field, M, Athanasopoulos, V, Baró, I, Ribeiro de Oliveira-Mendes, B, Redon, R, Charpentier, F, Raju, H, Disilvestre, D, Wei, J, Wang, R, Rafehi, H, Kaspi, A, Bahlo, M, Dick, I, Chen, S, Cook, M, Vinuesa, C, Overgaard, M, Schwartz, P

مصطلحات موضوعية: BSN, CALM2, Calmodulinopathy, Infanticide, Sudden unexpected death, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, MED/03 - GENETICA MEDICA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33200177; info:eu-repo/semantics/altIdentifier/wos/WOS:000637048400018; volume:23; issue:3; firstpage:441; lastpage:450; numberofpages:10; journal:EUROPACE; http://hdl.handle.net/10281/297351; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102908750

الاتاحة: http://hdl.handle.net/10281/297351
https://doi.org/10.1093/europace/euaa272

المؤلفون: Baudic, M., Murata, H., Bosada, F. M., Melo, U. S., Aizawa, T., Lindenbaum, P., Van Der Maarel, L. E., Guedon, A., Baron, E., Fremy, E., Foucal, A., Ishikawa, T., Ushinohama, H., Jurgens, S. J., Choi, S. H., Kyndt, F., Le Scouarnec, S., Wakker, V., Thollet, A., Rajalu, A., Takaki, T., Ohno, S., Shimizu, W., Horie, M., Kimura, T., Ellinor, P. T., Petit, Florence, Dulac, Y., Bru, P., Boland, A., Deleuze, J. F., Redon, R., Le Marec, H., Le Tourneau, T., Gourraud, J. B., Yoshida, Y., Makita, N., Vieyres, C., Makiyama, T., Mundlos, S., Christoffels, V. M., Probst, V., Schott, J. J., Barc, J.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Relation: Nat Commun; http://hdl.handle.net/20.500.12210/114496

الاتاحة: https://hdl.handle.net/20.500.12210/114496

المؤلفون: Ballinger, M. L., Pattnaik, S., Mundra, P. A., Zaheed, M., Rath, E., Priestley, P., Baber, J., Ray-Coquard, I., Isambert, N., Causeret, S., Van Der Graaf, W. T. A., Puri, A., Duffaud, F., Le Cesne, A., Seddon, B., Chandrasekar, C., Schiffman, J. D., Brohl, A. S., James, P. A., Kurtz, J. E., Penel, Nicolas, Myklebost, O., Meza-Zepeda, L. A., Pickett, H., Kansara, M., Waddell, N., Kondrashova, O., Pearson, J. V., Barbour, A. P., Li, S., Nguyen, T. L., Fatkin, D., Graham, R. M., Giannoulatou, E., Green, M. J., Kaplan, W., Ravishankar, S., Copty, J., Powell, J. E., Cuppen, E., Van Eijk, K., Veldink, J., Ahn, J. H., Kim, J. E., Randall, R. L., Tucker, K., Judson, I., Sarin, R., Ludwig, T., Genin, E., Deleuze, J. F., Haber, M., Marshall, G., Cairns, M. J., Blay, J. Y., Thomas, D. M., Tattersall, M., Neuhaus, S., Lewis, C., Carey-Smith, R., Wood, D., Porceddu, S., Dickinson, I., Thorne, H., James, P., Cassier, P., Penel, N., Ward, I., Van Der Graaf, W., Rickar, R., Hennig, I., Schiffman, J., Silvestri, A., Zaratzian, A., Tayao, M., Walwyn, K., Niedermayr, E., Mang, D., Clark, R., Thorpe, T., Macdonald, J., Riddell, K., Mar, J., Fennelly, V., Wicht, A., Zielony, B., Galligan, E., Glavich, G., Stoeckert, J., Williams, L., Djandjgava, L., Buettner, I., Osinki, C., Stephens, S., Rogasik, M., Bouclier, L., Girodet, M., Charreton, A., Fayet, Y., Crasto, S., Sandupatla, B., Yoon, Y., Je, N., Thompson, L., Fowler, T., Johnson, B., Petrikova, G., Hambridge, T., Hutchins, A., Bottero, D., Scanlon, D., Stokes-Denson, J., Génin, E., Campion, D., Dartigues, J. F., Lambert, Jean-Charles, Redon, R., Grenier-Boley, Benjamin, Letort, S., Lindenbaum, P., Meyer, V., Quenez, O., Dina, C., Bellenguez, Celine, Le Clézio, C. C., Giemza, J., Chatel, S., Férec, C., Le Marec, H., Letenneur, L., Nicolas, G., Rouault, K.

المساهمون: Université de Lille, CHU Lille, METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694, Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement (RID-AGE) - U1167

Relation: Science; http://hdl.handle.net/20.500.12210/89872

الاتاحة: https://hdl.handle.net/20.500.12210/89872

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207

الاتاحة: http://hdl.handle.net/2318/1764207
https://doi.org/10.1126/sciadv.abc9207
https://advances.sciencemag.org/content/6/49/eabc9207

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 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: 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: Cimarosti, B., Canac, R., Forest, V., Girardeau, A., Gaborit, N., Lemarchand, P., Redon, R., Lamirault, G.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 2, page 193-194 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2021.04.113
https://api.elsevier.com/content/article/PII:S1878648021001154?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648021001154?httpAccept=text/plain

المؤلفون: Bis, JC, Jian, X, Kunkle, BW, Chen, Y, Hamilton-Nelson, KL, Bush, WS, Salerno, WJ, Lancour, D, Ma, Y, Renton, AE, Marcora, E, Farrell, JJ, Zhao, Y, Qu, L, Ahmad, S, Amin, N, Amouyel, P, Beecham, GW, Below, JE, Campion, D, Cantwell, L, Charbonnier, C, Chung, J, Crane, PK, Cruchaga, C, Cupples, LA, Dartigues, J-F, Debette, S, Deleuze, J-F, Fulton, L, Gabriel, SB, Genin, E, Gibbs, RA, Goate, A, Grenier-Boley, B, Gupta, N, Haines, JL, Havulinna, AS, Helisalmi, S, Hiltunen, M, Howrigan, DP, Ikram, MA, Kaprio, J, Konrad, J, Kuzma, A, Lander, ES, Lathrop, M, Lehtimäki, T, Lin, H, Mattila, K, Mayeux, R, Muzny, DM, Nasser, W, Neale, B, Nho, K, Nicolas, G, Patel, D, Pericak-Vance, MA, Perola, M, Psaty, BM, Quenez, O, Rajabli, F, Redon, R, Reitz, C, Remes, AM, Salomaa, V, Sarnowski, C, Schmidt, H, Schmidt, M, Schmidt, R, Soininen, H, Thornton, TA, Tosto, G, Tzourio, C, van der Lee, SJ, van Duijn, CM, Valladares, O, Vardarajan, B, Wang, L-S, Wang, W, Wijsman, E, Wilson, RK, Witten, D, Worley, KC, Zhang, X, Alzheimer’s Disease Sequencing Project, Bellenguez, C, Lambert, J-C, Kurki, MI, Palotie, A, Daly, M, Boerwinkle, E, Lunetta, KL, Destefano, AL, Dupuis, J, Martin, ER, Schellenberg, GD, Seshadri, S, Naj, AC, Fornage, M, Farrer, LA

Relation: pii: 10.1038/s41380-019-0529-7; Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., Marcora, E., Farrell, J. J., Zhao, Y., Qu, L., Ahmad, S., Amin, N., Amouyel, P., Beecham, G. W., Below, J. E. ,. Farrer, L. A. (2020). Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry, 25 (8), pp.1901-1903. https://doi.org/10.1038/s41380-019-0529-7.; http://hdl.handle.net/11343/247060

الاتاحة: http://hdl.handle.net/11343/247060

المؤلفون: Bakker, MK, van der Spek, RAA, van Rheenen, W, Morel, S, Bourcier, R, Hostettler, IC, Alg, VS, van Eijk, KR, Koido, M, Akiyama, M, Terao, C, Matsuda, K, Walters, RG, Lin, K, Li, L, Millwood, IY, Chen, Z, Rouleau, GA, Zhou, S, Rannikmae, K, Sudlow, CLM, Houlden, H, van den Berg, LH, Dina, C, Naggara, O, Gentric, J-C, Shotar, E, Eugene, F, Desal, H, Winsvold, BS, Borte, S, Johnsen, MB, Brumpton, BM, Sandvei, MS, Willer, CJ, Hveem, K, Zwart, J-A, Verschuren, WMM, Friedrich, CM, Hirsch, S, Schilling, S, Dauvillier, J, Martin, O, Bian, Z, Chen, J, Chen, Y, Clarke, R, Collins, R, Guo, Y, Han, X, Hill, M, Liu, D, Lv, J, Millwood, I, Peto, R, Sansome, S, Walters, R, Yang, X, Yu, C, Kamatani, Y, Redon, R, Sargurupremraj, M, Tatlisumak, T, Debette, S, Werring, DJ, Bonner, S, Walsh, D, Bulters, D, Kitchen, N, Brown, M, Grieve, J, Malik, R, Dichgans, M, Rinkel, GJE, Worrall, BB, Pera, J, Slowik, A, Broderick, JP, Woo, D, Bijlenga, P, Ruigrok, YM, Jones, GT, Bown, MJ, Ko, NU, Kim, H, Coleman, JRI, Breen, G, Zaroff, JG, Klijn, CJM, Amouyel, P, Gaal-Paavola, EI, Niemela, M, Jaaskelainen, JE, von Und Zu Fraunberg, M, Lindgren, A, Veldink, JH

المصدر: Nature Genetics , 52 (12) pp. 1303-1313. (2020)

مصطلحات موضوعية: Cerebrovascular disorders, Genome-wide association studies, Stroke

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10118562/3/Werring_Genome-wide%20association%20study%20of%20intracranial%20aneurysms%20identifies%2017%20risk%20loci%20and%20genetic%20overlap%20with%20clinical%20risk%20factors_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10118562/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10118562/3/Werring_Genome-wide%20association%20study%20of%20intracranial%20aneurysms%20identifies%2017%20risk%20loci%20and%20genetic%20overlap%20with%20clinical%20risk%20factors_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10118562/

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

Relation: 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.pdf; https://discovery.ucl.ac.uk/id/eprint/10112002/

الاتاحة: 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.pdf
https://discovery.ucl.ac.uk/id/eprint/10112002/

المؤلفون: Belot, A, Rice, GI, Omarjee, SO, Rouchon, Q, Smith, EMD, Moreews, M, Tusseau, M, Frachette, C, Bournhonesque, R, Thielens, N, Gaboriaud, C, Rouvet, I, Chopin, E, Hoshino, A, Latour, S, Ranchin, B, Cimaz, R, Romagnani, P, Malcus, C, Fabien, N, Sarda, MN, Kassai, B, Lega, JC, Decramer, S, Abou-Jaoude, P, Bruce, IN, Simonet, T, Bardel, C, Rollat-Farnier, PA, Viel, S, Reumaux, H, O'Sullivan, J, Walzer, T, Mathieu, AL, Marenne, G, Ludwig, T, Genin, E, Ellingford, J, Bader-Meunier, B, Briggs, TA, Beresford, MW, Crow, YJ, Campion, D, Dartigues, JF, Deleuze, JF, Lambert, JC, Redon, R, Allain-Launay, E, Bouayed, K, Burtey, S, Despert, V, Fain, O, Fischbach, M, Hachulla, E, Hatchuel, Y, Kleinmann, JF, Kone-Paut, I, Lemelle, I, Maurier, F, Meinzer, U, Melki, I, Piram, M, Sibilia, J, Weill, O, Al-Abadi, E, Armon, K, Bailey, K, Brennan, M, Ciurtin, C, Gardner-Medwin, J, Haslam, K, Hawley, D, Leahy, A, Leone, V, Mewar, D, Moots, R, Pilkington, C, Ramanan, A, Ratcliffe, A, Sridhar, A, Riley, P, Satyapal, R, Sen, E, Wilkinson, N, Wood, F

المصدر: The Lancet Rheumatology , 2 (2) e99-e109. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094867/3/Ciurtin_Belot%20et%20al.,%202020.pdf; https://discovery.ucl.ac.uk/id/eprint/10094867/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094867/3/Ciurtin_Belot%20et%20al.,%202020.pdf
https://discovery.ucl.ac.uk/id/eprint/10094867/

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

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdf; Wijeyeratne, YD; Tanck, MW; Mizusawa, Y; Batchvarov, V; Barc, J; Crotti, L; Bos, JM; Tester, DJ; Muir, A; Veltmann, C; et al. Wijeyeratne, YD; Tanck, MW; Mizusawa, Y; Batchvarov, V; Barc, J; Crotti, L; Bos, JM; Tester, DJ; Muir, A; Veltmann, C; Ohno, S; Page, SP; Galvin, J; Tadros, R; Muggenthaler, M; Raju, H; Denjoy, I; Schott, J-J; Gourraud, J-B; Skoric-Milosavljevic, D; Nannenberg, EA; Redon, R; Papadakis, M; Kyndt, F; Dagradi, F; Castelletti, S; Torchio, M; Meitinger, T; Lichtner, P; Ishikawa, T; Wilde, AAM; Takahashi, K; Sharma, S; Roden, DM; Borggrefe, MM; McKeown, PP; Shimizu, W; Horie, M; Makita, N; Aiba, T; Ackerman, MJ; Schwartz, PJ; Probst, V; Bezzina, CR; Behr, ER (2020) SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families. Circ Genom Precis Med, 13 (6). ISSN 2574-8300 https://doi.org/10.1161/CIRCGEN.120.002911 SGUL Authors: Behr, Elijah Raphael Sharma, Sanjay

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112608/
https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdf