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1دورية أكاديمية
المؤلفون: Abbas Dehghan, Ioanna Tzoulaki, Antonis Pantazis, Sanjay K Prasad, Lukas Mach, James S Ware, Upasana Tayal, Rachel J Buchan, Angharad M Roberts, A John Baksi, Brian P Halliday, Daniel J Hammersley, Amrit S Lota, Richard E Jones, Devendra Meena
المصدر: Open Heart, Vol 9, Iss 1 (2022)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2دورية أكاديمية
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
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-021-21052-3Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83eTest
الإتاحة: https://doi.org/10.1038/s41467-021-21052-3Test
https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83eTest -
4دورية أكاديمية
المؤلفون: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-019-10717-9Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3Test
الإتاحة: https://doi.org/10.1038/s41467-019-10717-9Test
https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3Test -
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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
المساهمون: British Heart Foundation, Sir Jules Thorn Charitable Trust, Wellcome Trust, National Heart & Lung Institute Foundation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502d4033679b4a938e71105a442ecd3fTest
https://doi.org/10.1101/2023.04.03.23287612Test -
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المؤلفون: Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3Test
https://doi.org/10.1101/2023.03.30.23287948Test -
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المؤلفون: Laia Brunet-Garcia, Alessia Odori, Hannah Fell, Ella Field, Angharad M. Roberts, Luke Starling, Juan Pablo Kaski, Elena Cervi
المصدر: JACC: Case Reports. 4:287-293
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::79a6c1bf81742f7d8ba2564d1c42bba0Test
https://doi.org/10.1016/j.jaccas.2022.01.013Test -
8دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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المؤلفون: Inga Voges, Amrit Lota, Resham Baruah, Paul J.R. Barton, James S. Ware, John Gregson, Sanjay K Prasad, Nicola Whiffin, Brian P Halliday, Julian W.E. Jarman, Dudley J. Pennell, Angharad M. Roberts, Michael P. Frenneaux, A. John Baksi, Rachel Buchan, Upasana Tayal, Stuart A. Cook, John G.F. Cleland
المصدر: Heart. 108:619-625
مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, Alcohol Drinking, Cardiomyopathy, 030204 cardiovascular system & hematology, Alcoholic cardiomyopathy, Left ventricular hypertrophy, Ventricular Function, Left, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Ventricular Remodeling, business.industry, Cardiomyopathy, Alcoholic, Dilated cardiomyopathy, Prognosis, medicine.disease, 3. Good health, medicine.anatomical_structure, Ventricle, Heart failure, Cohort, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bca5d0f778434d5554351d51cc9acf6Test
https://doi.org/10.1136/heartjnl-2021-319418Test -
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المؤلفون: Antonio de Marvao, Francesca Girolami, Antonis Pantazis, Francesco Mazzarotto, A. John Baksi, James S. Ware, Kathryn A. McGurk, Iacopo Olivotto, Megan H. Hawley, Angharad M. Roberts, Sanjay K Prasad, Roddy Walsh, Elisabetta Cerbai, Paul J.R. Barton, Beatrice Boschi, Ben Statton, Soha Romeih, Leander Beekman, Elisabeth M. Lodder, Declan P. O'Regan, Matteo Beltrami, Connie R. Bezzina, Magdi H. Yacoub, Birgit Funke, Mona Allouba, Yasmine Aguib, Stuart A. Cook
المساهمون: Fondation Leducq, British Heart Foundation, Wellcome Trust, Guys & St Thomas NHS Foundation Trust, Department of Health, Imperial College Healthcare NHS Trust- BRC Funding, Mason Medical Research Foundation, The Academy of Medical Sciences, Cardiology, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, ACS - Heart failure & arrhythmias
المصدر: Genetics in Medicine
Genetics in medicine, 23(5), 856-864. Lippincott Williams and Wilkinsمصطلحات موضوعية: Cardiomyopathy, Dilated, Heart Defects, Congenital, 0301 basic medicine, Population, Cardiomyopathy, 030204 cardiovascular system & hematology, Biology, DIAGNOSIS, Article, CLASSIFICATION, DISEASE, Congenital, 03 medical and health sciences, 0302 clinical medicine, Dilated, medicine, Humans, Genetic Testing, cardiovascular diseases, education, Genetics (clinical), Heart Defects, CARDIOLOGY, Genetic testing, Genetics & Heredity, Genetics, 0604 Genetics, education.field_of_study, Science & Technology, CARDIOMYOPATHY, medicine.diagnostic_test, MUTATIONS, STATEMENT, Hypertrophic cardiomyopathy, 1103 Clinical Sciences, Dilated cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Genetic architecture, 030104 developmental biology, Hypertrophic, cardiovascular system, Left ventricular noncompaction, MYH7, Cardiomyopathies, Life Sciences & Biomedicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d52443c7a1a89715d8915dadd496aedTest
https://doi.org/10.1038/s41436-020-01049-xTest