المؤلفون: Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall

المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/8fed1ba26d23493d97359693ba5f0785

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

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Inherited cardiac conditions, Inheritance, Allelic requirement, Disease mechanism, Gene curation, Genomic variant filtering, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160

المؤلفون: Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)

مصطلحات موضوعية: Arrhythmia, Automated Patch Clamp, Variant classification, Variant of Uncertain Significance, long QT syndrome, Functional assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000095; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/45cd34fb97534a84883eace8c131e642

المؤلفون: Holly Canton, Rebecca Macintosh, Joanna Sweeting, Helen Mountain, Jodie Ingles, Amy Nisselle, Erin Turbitt, Alison McEwen, Laura Yeates

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101865- (2024)

مصطلحات موضوعية: Genetic counseling, Mentoring, Professional development, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010112; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/92c56e3f7f4a4259b757cf8ce8fcf2f4

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

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101047- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001936; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/bd0ce983443640bf8524d486c2542311

المؤلفون: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

مصطلحات موضوعية: Australian Genomics, Cardiovascular genetic disorders, Genome sequencing, Specialized multidisciplinary care, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009889; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

المؤلفون: Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C. Isbister, Hariharan Raju, David Richmond, Mark P. Ryan, Emma S. Singer, Raymond W. Sy, Laura Yeates, Richard D. Bagnall, Christopher Semsarian, Jodie Ingles

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Inherited cardiac conditions, Sudden cardiac death, Genetic testing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/f184e1d0a01942f097115bc1973c0a47

المؤلفون: Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting

المصدر: JMIR Research Protocols, Vol 12, p e48636 (2023)

مصطلحات موضوعية: Medicine, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://www.researchprotocols.org/2023/1/e48636; https://doaj.org/toc/1929-0748

URL الوصول: https://doaj.org/article/40cb86e656574b96bef15f51f79059a6

المؤلفون: Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Variant interpretation, Non-coding variation, Gene regulation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/592317068741464ab4f2701a8ccc78e4

المؤلفون: Sonia Franciosi, PhD, Dominic J. Abrams, MBBS, MD, MBA, Jodie Ingles, PhD, MPH, Shubhayan Sanatani, MD, FRCPC, FHRS, CCDS

المصدر: CJC Pediatric and Congenital Heart Disease, Vol 1, Iss 2, Pp 45-59 (2022)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772812922000161; https://doaj.org/toc/2772-8129

URL الوصول: https://doaj.org/article/aca32cec006a4b7f825356382753943d

المؤلفون: Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f

المؤلفون: Elizabeth D Paratz, Srikkumar Ashokkumar, Alexander van Heusden, Karen Smith, Dominica Zentner, Natalie Morgan, Sarah Parsons, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Chris Semsarian, Jodie Ingles, Dion Stub, Andre La Gerche

المصدر: American Journal of Preventive Cardiology, Vol 11, Iss , Pp 100369- (2022)

مصطلحات موضوعية: Obesity, Extreme obesity, Sudden cardiac death, Cardiomyopathy, Diseases of the circulatory (Cardiovascular) system, RC666-701, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666667722000538; https://doaj.org/toc/2666-6677

URL الوصول: https://doaj.org/article/aeb6fa23e1f5469198c82764f516fbd8

المؤلفون: Paul Lacaze, Robert Sebra, Moeen Riaz, Jodie Ingles, Jane Tiller, Bryony A. Thompson, Paul A. James, Diane Fatkin, Christopher Semsarian, Christopher M. Reid, Andrew M. Tonkin, Ingrid Winship, Eric Schadt, John J. McNeil

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/3e5b23d8d40846fe86c233e0dbe01b83

المؤلفون: Martin K. Stiles, Arthur A. M. Wilde, Dominic J. Abrams, Michael J. Ackerman, Christine M. Albert, Elijah R. Behr, Sumeet S. Chugh, Martina C. Cornel, Karen Gardner, Jodie Ingles, Cynthia A. James, Jyh‐Ming Jimmy Juang, Stefan Kääb, Elizabeth S. Kaufman, Andrew D. Krahn, Steven A. Lubitz, Heather MacLeod, Carlos A. Morillo, Koonlawee Nademanee, Vincent Probst, Elizabeth V. Saarel, Luciana Sacilotto, Christopher Semsarian, Mary N. Sheppard, Wataru Shimizu, Jonathan R. Skinner, Jacob Tfelt‐Hansen, Dao Wu Wang

المصدر: Journal of Arrhythmia, Vol 37, Iss 3, Pp 481-534 (2021)

مصطلحات موضوعية: Brugada syndrome, cardiac arrest, cardiac genetics, catecholaminergic polymorphic ventricular tachycardia, defibrillator, expert consensus statement, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1880-4276; https://doaj.org/toc/1883-2148

URL الوصول: https://doaj.org/article/c178f64f2c6147188a7773debe130bba

المؤلفون: Christopher Semsarian, Laura Yeates, Jodie Ingles, Karen Gardner, Judy Do, Lieke van den Heuvel, Gabrielle Fleming, Alison McEwen, Leesa Adlard

المصدر: BMJ Open, Vol 12, Iss 8 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/12/8/e053785.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/7cbfbe3378324611b37db1d117db0364

المؤلفون: Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R Behr, Lia Crotti, Perry M Elliott, Cecilia M Gonzalez Corcia, Flavio D'Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M Van Craenebroek, Arthur Wilde, Michael Papadakis

المساهمون: Castelletti, S, Gray, B, Basso, C, R Behr, E, Crotti, L, M Elliott, P, M Gonzalez Corcia, C, D'Ascenzi, F, Ingles, J, Loeys, B, Pantazis, A, E Pieles, G, Saenen, J, Sarquella Brugada, G, Sanz de la Garza, M, Sharma, S, M Van Craenebroek, E, Wilde, A, Papadakis, M

مصطلحات موضوعية: Athlete, Cardiomyopathie, Channelopathie, Genetic testing, Inherited cardiac condition, Sudden cardiac death

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36070487; info:eu-repo/semantics/altIdentifier/wos/WOS:000851196000004; volume:29; issue:12; firstpage:1582; lastpage:1591; numberofpages:10; journal:EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY; http://hdl.handle.net/10281/392936; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137515547

الاتاحة: http://hdl.handle.net/10281/392936
https://doi.org/10.1093/eurjpc/zwac080

المؤلفون: Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, J Andrew Black, Alex Brown, John R Burnett, Christina A Bursill, Alison Colley, Peter M Clifton, Elif I Ekinci, Gemma A Figtree, Brett H Forge, Jacquie Garton-Smith, Dorothy F Graham, Ian Hamilton-Craig, Christian R Hamilton-Craig, Clare Heal, Charlotte M Hespe, Amanda J Hooper, Laurence G Howes, Jodie Ingles, Edward D Janus, Nadarajah Kangaharan, Anthony C Keech, Andrew B Kirke, Leonard Kritharides, Campbell V Kyle, Paul Lacaze, Stephen CH Li, Stjepana Maticevic, Brendan M McQuillan, Sam Mirzaee, Trevor A Mori, Allison C Morton, David M Colquhoun, Joanna C Moullin, Paul J Nestel, Kristen J Nowak, Richard C O'Brien, Nicholas Pachter, Michael M Page, Peter J Psaltis, Jan Radford, Nicola J Reid, Elizabeth N Robertson, Jacqueline DM Ryan, Mitchell N Sarkies, Carl J Schultz, Russell S Scott, Christopher Semsarian, Leon A Simons, Catherine Spinks, Andrew M Tonkin, Frank van Bockxmeer, Kathryn E Waddell-Smith, Natalie C Ward, Harvey D White, Andrew M Wilson, Ingrid Winship, Ann Marie Woodward, Stephen J Nicholls, Peter Brett, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti

المصدر: American Journal of Preventive Cardiology, Vol 6, Iss , Pp 100151- (2021)

مصطلحات موضوعية: Familial hypercholesterolaemia, Guidance, Care, Management, Adults, Children, Diseases of the circulatory (Cardiovascular) system, RC666-701, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666667721000064; https://doaj.org/toc/2666-6677

URL الوصول: https://doaj.org/article/dc3b0f2fd062444885e764503620da67

المؤلفون: Stiles, Martin K, Wilde, Arthur A M, Abrams, Dominic J, Ackerman, Michael J, Albert, Christine M, Behr, Elijah R, Chugh, Sumeet S, Cornel, Martina C, Gardner, Karen, Grad, Jodie Ingles, James, Cynthia A, Jimmy Juang, Jyh-Ming, Kääb, Stefan, Kaufman, Elizabeth S, Krahn, Andrew D, Lubitz, Steven A, MacLeod, Heather, Morillo, Carlos A, Nademanee, Koonlawee, Probst, Vincent, Saarel, Elizabeth V, Sacilotto, Luciana, Semsarian, Christopher, Sheppard, Mary N, Shimizu, Wataru, Skinner, Jonathan R, Tfelt-Hansen, Jacob, Wang, Dao Wu

المصدر: Stiles , M K , Wilde , A A M , Abrams , D J , Ackerman , M J , Albert , C M , Behr , E R , Chugh , S S , Cornel , M C , Gardner , K , Grad , J I , James , C A , Jimmy Juang , J-M , Kääb , S , Kaufman , E S , Krahn , A D , Lubitz , S A , MacLeod , H , Morillo , C A , Nademanee , K , Probst , V , Saarel , E ....

الاتاحة: https://research.vumc.nl/en/publications/586de79a-de69-4443-a512-b789f9cad120
https://doi.org/10.1016/j.hrthm.2020.10.010
http://www.scopus.com/inward/record.url?scp=85099114513&partnerID=8YFLogxK

المؤلفون: Christopher Semsarian, Laura Yeates, Jodie Ingles, Kristie McDonald, Louise Sharpe

المصدر: Open Heart, Vol 7, Iss 2 (2020)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://openheart.bmj.com/content/7/2/e001120.full; https://doaj.org/toc/2053-3624

URL الوصول: https://doaj.org/article/ffc78d2ad8fa4497bad0a3c16e0f6170

المؤلفون: Yana Smagarinsky, Charlotte Burns, Catherine Spinks, Christopher Semsarian, Jodie Ingles

المصدر: Pilot and Feasibility Studies, Vol 3, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Communication aid, Pathogenicity, Variant, Genetic counseling, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40814-017-0205-0; https://doaj.org/toc/2055-5784

URL الوصول: https://doaj.org/article/8423c99167704690b7c8ba0b20987d89