المؤلفون: Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2056-7944Test

الوصول الحر: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271Test

المؤلفون: Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman

المصدر: Cardiogenetics, Vol 11, Iss 2, Pp 73-83 (2021)

مصطلحات موضوعية: hypertrophic cardiomyopathy, MYBPC3, splice variants, minigene assays, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2035-8148/11/2/9Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test

الوصول الحر: https://doaj.org/article/5c46b773a2b144039d74397e5dc7663cTest

المؤلفون: Maria Xu, Christopher Orsborne, James Eden, Andrew Wallace, Heather J. Church, Karen Tylee, Sasalu Deepak, Christopher Cassidy, Peter Woolfson, Christopher Miller, Matthias Schmitt, Ana Jovanovic, William G. Newman

المصدر: Cardiogenetics, Vol 11, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: mosaic, Fabry disease, somatic mosaicism, cardiomyopathy, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2035-8148/11/1/1Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test

الوصول الحر: https://doaj.org/article/b285246661f44d98bb529b71a545c8c7Test

المؤلفون: Helen R Griffin, Darroch H Hall, Ana Topf, James Eden, A Graham Stuart, Jonathan Parsons, Ian Peart, John E Deanfield, John O'Sullivan, Sonya V Babu-Narayan, Michael A Gatzoulis, Frances A Bu'lock, Shoumo Bhattacharya, Jamie Bentham, Martin Farrall, Javier Granados Riveron, J David Brook, John Burn, Heather J Cordell, Judith A Goodship, Bernard Keavney

المصدر: PLoS ONE, Vol 4, Iss 3, p e4978 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2654913?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/2c26e9e99a944adc87ae6fd42ea845bdTest

المؤلفون: Ana Jovanovic, Christopher A. Miller, Heather J. Church, Andrew J Wallace, Christopher Orsborne, Sasalu Deepak, Christopher Cassidy, William G. Newman, Karen Tylee, Matthias Schmitt, Peter Woolfson, James Eden, Maria Xu

المصدر: Cardiogenetics, Vol 11, Iss 1, Pp 1-9 (2021)
Newman, W, Orsborne, C, Xu, M, Miller, C, Schmitt, M, Jovanovic, A, Woolfson, P, Eden, J, Church, H J, Tylee, K L, Cassidy, C, Deepak, S & Wallace, A J 2020, ' Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy ', Cardiogenetics, vol. 11 . https://doi.org/10.3390/cardiogenetics11010001Test

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:Diseases of the circulatory (Cardiovascular) system, Cardiomyopathy, Context (language use), 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, medicine, Biochemical testing, Loss function, General Environmental Science, Genetic testing, Fabry disease, medicine.diagnostic_test, business.industry, Hypertrophic cardiomyopathy, medicine.disease, 030104 developmental biology, somatic mosaicism, Somatic mosaicism, lcsh:RC666-701, General Earth and Planetary Sciences, mosaic, business, cardiomyopathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1070498827447e926999bf0f59c9b7aTest
https://www.mdpi.com/2035-8148/11/1/1Test

المؤلفون: Taylor, Alistair James Eden

مصطلحات موضوعية: 621.319, Power transmission & signal transmission

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.315514Test

المؤلفون: Stephen A Roberts, Luigi Venetucci, Richard Caswell, Claire Hopton, Deborah J. Morris-Rosendahl, James Eden, Damilola Olubando, N. Lowri Thomas, William G. Newman

المصدر: Olubando, D, Hopton, C, Eden, J, Caswell, R, Thomas, N L, Roberts, S A, Venetucci, L & Newman, W 2020, ' Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships ', Journal of Human Genetics, vol. 65, pp. 531-539 . https://doi.org/10.1038/s10038-020-0738-6Test

مصطلحات موضوعية: 0301 basic medicine, Genetics, 030105 genetics & heredity, Biology, Catecholaminergic polymorphic ventricular tachycardia, medicine.disease, musculoskeletal system, Sudden death, Ryanodine receptor 2, Minor allele frequency, 03 medical and health sciences, 030104 developmental biology, Polymorphism (computer science), Genetic variation, medicine, cardiovascular system, Missense mutation, Allele frequency, tissues, Genetics (clinical)

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a28a514edeb8ae9ec14d86a889c811dbTest

المؤلفون: Damilola, Olubando, Claire, Hopton, James, Eden, Richard, Caswell, N, Lowri Thomas, Stephen A, Roberts, Deborah, Morris-Rosendahl, Luigi, Venetucci, William G, Newman

المصدر: Journal of human genetics. 65(6)

مصطلحات موضوعية: Male, Death, Sudden, Cardiac, Phenotype, Gene Frequency, Mutation, Missense, Tachycardia, Ventricular, Genetic Variation, Humans, Female, Genetic Predisposition to Disease, Ryanodine Receptor Calcium Release Channel, Genomics, Polymorphism, Single Nucleotide

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0a267dcdd4f7791c80e0d416d8b07f1fTest
https://pubmed.ncbi.nlm.nih.gov/32152366Test