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1دورية أكاديمية
المؤلفون: Buyandelger, B, Mansfield, C, Kostin, S, Choi, O, Roberts, AM, Ware, JS, Mazzarotto, F, Pesce, F, Buchan, R, Isaacson, RL, Vouffo, J, Gunkel, S, Knoll, G, McSweeney, SJ, Wei, HM, Perrot, A, Pfeiffer, C, Toliat, MR, Ilieva, K, Krysztofinska, E, Lopez-Olaneta, MM, Gomez-Salinero, JM, Schmidt, A, Ng, KE, Teucher, N, Chen, J, Teichmann, M, Eilers, M, Haverkamp, W, Regitz-Zagrosek, V, Hasenfuss, G, Braun, T, Pennell, DJ, Gould, I, Barton, PJR, Lara-Pezzi, E, Schafer, S, Hubner, N, Felkin, LE, O'Regan, DP, Brand, T, Milting, H, Nurnberg, P, Schneider, MD, Prasad, S, Petretto, E, Knoll, R
المصدر: Circulation. Cardiovascular genetics. 8(5):643-652
مصطلحات موضوعية: Medicin och hälsovetenskap
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المؤلفون: Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
المساهمون: Leducq Foundation for Cardiovascular Research, Imperial College Healthcare NHS Trust- BRC Funding
المصدر: Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025مصطلحات موضوعية: Untranslated region, medicine.medical_specialty, DNA Copy Number Variations, Developmental Disabilities, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Coding region, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, 11 Medical and Health Sciences, Genetics (clinical), Loss function, Exome sequencing, 030304 developmental biology, Genetics & Heredity, 0303 health sciences, MEF2 Transcription Factors, developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, 06 Biological Sciences, Genomics England Research Consortium, Medical genetics, Haploinsufficiency, 5' Untranslated Regions, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/ -
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المؤلفون: Whiffin, N, Karczewski, KJ, Zhang, X, Chothani, S, Smith, MJ, Evans, DG, Roberts, AM, Quaife, NM, Schafer, S, Rackham, O, Alfoeldi, J, O'Donnell-Luria, AH, Francioli, LC, Armean, IM, Aguilar Salinas, CA, Cook, SA, Barton, PJR, MacArthur, DG, Ware, JS
مصطلحات موضوعية: Multidisciplinary Sciences, Science & Technology, Genome Aggregation Database Consortium, Science & Technology - Other Topics, Genome Aggregation Database Production Team
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::714958e1b4fac001f2ef3829252e9128
http://hdl.handle.net/10044/1/87317 -
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المؤلفون: Mazzarotto, F, Hawley, M, Beltrami, M, Beekman, L, Boschi, B, Girolami, F, Roberts, A, Lodder, E, Cerbai, E, Cook, S, Ware, J, Funke, B, Olivotto, I, Bezzina, C, Barton, PJR, Walsh, R
المساهمون: Wellcome Trust
مصطلحات موضوعية: cardiovascular system, cardiovascular diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::a040c23ad153a7d75cc6e762e90638c5
http://hdl.handle.net/10044/1/82587 -
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المؤلفون: Garcia-Pavia, P, Kim, Y, Restrepo-Cordoba, MA, Lunde, IG, Wakimoto, H, Smith, AM, Toepfer, CN, Getz, K, Gorham, J, Patel, P, Ito, K, Willcox, JA, Arany, Z, Li, J, Owens, AT, Govind, R, Nuñez, B, Mazaika, E, Bayes-Genis, A, Walsh, R, Finkelman, B, Lupon, J, Whiffin, N, Serrano, I, Midwinter, W, Wilk, A, Bardaji, A, Ingold, N, Buchan, R, Tayal, U, Pascual-Figal, DA, De Marvao, A, Ahmad, M, Garcia-Pinilla, JM, Pantazis, A, Dominguez, F, John Baksi, A, O'Regan, DP, Rosen, SD, Prasad, SK, Lara-Pezzi, E, Provencio, M, Lyon, AR, Alonso-Pulpon, L, Cook, SA, DePalma, SR, Barton, PJR, Aplenc, R, Seidman, JG, Ky, B, Ware, JS, Seidman, CE
المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Wellcome Trust, Medical Research Council (Reino Unido), National Institute for Health Research (Reino Unido), Imperial College London (Reino Unido), Fondation Leducq, British Heart Foundation, National Institutes of Health (Estados Unidos), Howard Hughes Medical Institute, Fundación ProCNIC, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Department of Health, Royal Brompton & Harefield NHS Foundation Trust, Imperial College Healthcare NHS Trust- BRC Funding, Rosetrees Trust, The Academy of Medical Sciences
المصدر: Circulation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Repisalud
Instituto de Salud Carlos III (ISCIII)مصطلحات موضوعية: CARDIOTOXICITY, cardiomyopathies, Adult, Male, Cardiac & Cardiovascular Systems, FAMILIAL DILATED CARDIOMYOPATHY, Antineoplastic Agents, Mice, Transgenic, TITIN, 1117 Public Health and Health Services, Cohort Studies, Mice, Neoplasms, A-BAND TRUNCATION, Animals, Humans, genetics, titin, Prospective Studies, AMERICAN SOCIETY, 1102 Cardiorespiratory Medicine and Haematology, POLYMORPHISMS, Aged, Retrospective Studies, Science & Technology, CONGESTIVE-HEART-FAILURE, MUTATIONS, Genetic Variation, 1103 Clinical Sciences, CHEMOTHERAPY, Middle Aged, medical oncology, drug therapy, Mice, Inbred C57BL, Peripheral Vascular Disease, Cardiovascular System & Hematology, Cardiovascular System & Cardiology, Female, ECHOCARDIOGRAPHY, Cardiomyopathies, Life Sciences & Biomedicine
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab94f88417d0f5971f353ebde1cc5ef7
https://hdl.handle.net/10668/13834 -
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المؤلفون: Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Li, N, Felkin, L, Thomson, Kl, Watkins, H, Barton, Pjr, Olivotto, I, Cook, Sa, Bezzina, Cr, Ware, Js
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3662::213b033bd2c7369b628794cad3f1a928
http://hdl.handle.net/11379/545687 -
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المؤلفون: Chothani, S, Schafer, S, Adami, E, Viswanathan, S, Widjaja, A, Langley, S, Tan, J, Pua, CJ, D’Agostino, G, Van Heesch, S, Witte, F, Felkin, L, Christodoulou, E, Dong, J, Blachut, S, Patone, G, Barton, PJR, Hubner, N, Cook, S, Rackham, OJL
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::94961a4984919ed0fc7a68e0ca5a7c7d
http://hdl.handle.net/10044/1/82590 -
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المؤلفون: Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, Magalhães, TR
المصدر: The Ulster Medical Journal
مصطلحات موضوعية: Poster Presentations, Abstracts, Programme, Spoken Papers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8954599fc3cb5de9d5f4819409a3d6a4
http://europepmc.org/articles/PMC4642251 -
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المؤلفون: Rea, G, Homfray, T, Till, J, Roses-Noguer, F, Buchan, RJ, Wilkinson, S, Wilk, A, Walsh, R, John, S, McKee, S, Stewart, FJ, Murday, V, Taylor, RW, Ashworth, M, Baksi, AJ, Daubeney, P, Prasad, S, Barton, PJR, Cook, SA, Ware, JS
المساهمون: The Academy of Medical Sciences, Wellcome Trust, Department of Health
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, dilated cardiomyopathy, oncocytic cardiomyopathy, asymmetric, linear skin defects, linear hyperpigmentation, left ventricular noncompaction cardiomyopathy, chemical and pharmacologic phenomena, Wolff–Parkinson–White syndrome, ventricular fibrillation, microphthalmos
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a78893f72c70335eaceb875284b55962
http://europepmc.org/articles/PMC5171697 -
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