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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Claire Hopton, Anke J. Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Nicola Bates, Benjamin Brown, Irit Huber, Susan J. Kimber, William G. Newman, Luigi Venetucci, Lior Gepstein
المصدر: Physiological Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
مصطلحات موضوعية: CPVT, human induced pluripotent stem cells, RYR2, ventricular arrhythmia, Physiology, QP1-981
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2051-817XTest
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المؤلفون: Lior Gepstein, Benjamin Brown, Claire Hopton, Irit Huber, Anke J. Tijsen, Arbel G, Susan J. Kimber, William G. Newman, Luigi Venetucci, Amira Gepstein, Bates N, L Maizels
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Ryanodine receptor, chemistry.chemical_element, Calcium, Catecholaminergic polymorphic ventricular tachycardia, medicine.disease, Ryanodine receptor 2, Nebivolol, Endocrinology, chemistry, Internal medicine, cardiovascular system, medicine, Missense mutation, business, Carvedilol, Loss function, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e349694e1774e5b4a93e0e741b7c179Test
https://doi.org/10.1101/2021.03.16.21252576Test -
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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
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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 -
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المؤلفون: Claire Hopton, Miriam Lettieri, Luigi Venetucci
المصدر: Channelopathies in Heart Disease ISBN: 9783319778112
مصطلحات موضوعية: Sarcolemma, Chemistry, Cardiac electrophysiology, Extracellular, Biophysics, food and beverages, Ionic bonding, Gating, Electrochemical gradient, Ion channel, Ion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5eef142a1d756e6275fdfb2a977bbfe1Test
https://doi.org/10.1007/978-3-319-77812-9_6Test -
7The characterisation of a novel nonsense mutation in RYR2 using human induced pluripotent stem cells
المؤلفون: Claire Hopton, Anke Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Irit Huber, Luigi Venetucci, William Newman, Lior Gepstein
المصدر: University of Manchester-PURE
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::96d25e302eaff7d5007a30121e3b80dcTest
https://research.manchester.ac.uk/en/publications/3485aa5f-b8b6-4ad4-adfd-9066506c49d9Test -
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المؤلفون: Ali, A., Claire Hopton, Ah, Abdelhafiz
المصدر: University of Manchester-PURE
مصطلحات موضوعية: Review
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::062ef2520c21f6a99b8a6a10278e2b22Test
https://research.manchester.ac.uk/en/publications/243b2b60-60bc-4f43-9d18-7dec989d114aTest -
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المؤلفون: Claire Hopton, Amira Gepstein, Irit Huber, Lior Gepstein, Gil Arbel, Anke J. Tijsen, Luigi Venetucci, Leonid Maizels, William G. Newman
المصدر: University of Manchester-PURE
مصطلحات موضوعية: Nonsense mutation, Cancer research, Human Induced Pluripotent Stem Cells, Biology, Cardiology and Cardiovascular Medicine, Molecular Biology, Ryanodine receptor 2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602a7d41cbc9660841eb7d2d26ee89c5Test
https://research.manchester.ac.uk/en/publications/45285d83-8f47-429b-bda3-1571832d14bbTest -
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المؤلفون: Abdelhafiz, Ahmed H., Boon Eng Loo, Nicola Hensey, Claire Hopton, Alan Sinclair
المصدر: University of Manchester-PURE
مصطلحات موضوعية: Review
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::59bfe364a063b3224163ec87bed4145aTest
https://research.manchester.ac.uk/en/publications/185fb025-8e1b-4252-852f-68573b5e9864Test