المؤلفون: Lipov, Alex, Jurgens, Sean, Mazzarotto, Francesco, Allouba, Mona, Aguib, Yasmine, Gennarelli, Massimo, Yacoub, Magdi, Ellinor, Patrick, Bezzina, Connie, Walsh, Roddy, Pirruccello, James

المصدر: Nature Cardiovascular Research. 2(11)

مصطلحات موضوعية: Cardiovascular genetics, Genetics research, Medical genetics, Medical genomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/560743g5Test

المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R

مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/186976Test

الإتاحة: https://doi.org/20.500.12278/186976Test
https://doi.org/10.1038/s41588-021-01007-6Test
https://oskar-bordeaux.fr/handle/20.500.12278/186976Test
https://hdl.handle.net/20.500.12278/186976Test

المؤلفون: Waddell, Amber, Hespe, Sophie, Asatryan, Babken, Owens, Emma, Thaxton, Courtney, Adduru, Mhy-Lanie, Anderson, Kailyn, Brown, Emily, Hoffman-Andrews, Lily, Jordan, Elizabeth, Mayers, Megan, Peters, Stacey, Stafford, Fergus, Bagnall, Richard, Bronicki, Lucas, Callewaert, Bert, Chahal, C. Anwar, James, Cynthia, Jarinova, Olga, Landstrom, Andrew, McNally, Elizabeth, Murray, Brittney, Muiño-Mosquera, Laura, Parikh, Victoria, Reuter, Chloe, Walsh, Roddy, Wayburn, Bess, Ware, James, Ingles, Jodie

المصدر: Genetics in Medicine Open ; volume 2, page 101047 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101047Test
https://api.elsevier.com/content/article/PII:S2949774424001936?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001936?httpAccept=text/plainTest

المؤلفون: Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A, Jarinova, Olga, Johnson, Renee, Judge, Daniel P, Lahrouchi, Najim, Deprez, Ronald H Lekanne, Lumbers, R Thomas, Mazzarotto, Francesco, Domingo, Argelia Medeiros, Miller, Rebecca L, Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J Peter, Walsh, Roddy, Wang, Jessica, Ware, James, Hershberger, Ray E

المصدر: Circulation. 144(1)

مصطلحات موضوعية: Cardiovascular, Genetics, Heart Disease, Rare Diseases, Biotechnology, Cardiomyopathy, Dilated, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Genetic Testing, Humans, cardiomyopathy, genetics, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4dj848ntTest

المؤلفون: Pua, Chee Jian, Tham, Nevin, Chin, Calvin WL, Walsh, Roddy, Khor, Chiea Chuen, Toepfer, Christopher N, Repetti, Giuliana G, Garfinkel, Amanda C, Ewoldt, Jourdan F, Cloonan, Paige, Chen, Christopher S, Lim, Shi Qi, Cai, Jiashen, Loo, Li Yang, Kong, Siew Ching, Chiang, Charleston WK, Whiffin, Nicola, de Marvao, Antonio, Lio, Pei Min, Hii, An An, Yang, Cheng Xi, Le, Thu Thao, Bylstra, Yasmin, Lim, Weng Khong, Teo, Jing Xian, Padilha, Kallyandra, Silva, Gabriela V, Pan, Bangfen, Govind, Risha, Buchan, Rachel J, Barton, Paul JR, Tan, Patrick, Foo, Roger, Yip, James WL, Wong, Raymond CC, Chan, Wan Xian, Pereira, Alexandre C, Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S, Seidman, Jonathan G, Seidman, Christine E, Cook, Stuart A

المصدر: Circulation Genomic and Precision Medicine. 13(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Cardiovascular, Clinical Research, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Asian People, Cardiomyopathy, Hypertrophic, China, Female, Gene Frequency, Genetic Association Studies, Haplotypes, Heart Ventricles, Heterozygote, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Risk, Singapore, Troponin I, Troponin T, cardiomyopathies, hypertrophy, population, troponin I, troponin T, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/78x4h35wTest

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

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

المؤلفون: Walsh, Roddy

مرشدي الرسالة: Cook, Stuart ; Barton, Paul

مصطلحات موضوعية: 610

الإتاحة: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.745299Test

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

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

المؤلفون: Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S

المساهمون: UMC Utrecht, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health

مصطلحات موضوعية: Databases, Genetic, Genetic Testing, Genetic Variation, Genomics, Humans, Inheritance Patterns, Inherited cardiac conditions, Inheritance, Variant classification, Allelic requirement, Disease mechanism, Genomic variant filtering, Gene curation, Variant interpretation, Genetics(clinical), Genetics, Molecular Medicine, Molecular Biology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450344Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450344Test

المؤلفون: Josephs, Katherine S., Roberts, Angharad M., Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J., Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D., Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C., Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E., Chahal, C. Anwar A., Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M., Judge, Daniel P., van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S.

المساهمون: Sir Jules Thorn Charitable Trust, Wellcome Trust, British Heart Foundation, Medical Research Council, NIHR Imperial Biomedical Research Centre, National Human Genome Research Institute, Canada Research Chairs, American Heart Association, Hartstichting

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01246-8Test