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1دورية أكاديمية
المؤلفون: Jacob O. Day, Adam J. Zeman
المصدر: Middle East Journal of Cancer, Vol 7, Iss 4, Pp 221-223 (2016)
مصطلحات موضوعية: Mesothelioma, Paraneoplastic syndromes, Limbic encephalitis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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2
المؤلفون: Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
المساهمون: Tábara, Luis Carlos [0000-0001-7684-3811], Courtin, Thomas [0000-0002-0275-2498], Leslie, Joseph S [0000-0003-0972-8818], Rawlins, Lettie E [0000-0002-6764-253X], Kunji, Edmund RS [0000-0002-0610-4500], Vona, Barbara [0000-0002-6719-3447], Houlden, Henry [0000-0002-2866-7777], Crosby, Andrew H [0000-0002-6637-3411], Prudent, Julien [0000-0003-3821-6088], Apollo - University of Cambridge Repository
مصطلحات موضوعية: mitochondria, mitochondria-ER contact sites/MERCs, Spastic Paraplegia, Hereditary, Mutation, Humans, endoplasmic reticulum/ER, Neurology (clinical), Calcium Channels, Endoplasmic Reticulum, TMEM63C, hereditary spastic paraplegia/HSP
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b13c34010c32ae9451b975e0a2602c6
https://www.repository.cam.ac.uk/handle/1810/335811 -
3
المؤلفون: Jacob O. Day, Stephen Smith, Alastair J. Noyce, Jane Alty, Alison Jeffery, Rebecca Chapman, Camille Carroll
المصدر: Journal of Parkinson's disease. 12(5)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Outcome Assessment, Health Care, Biomedical Technology, Humans, Parkinson Disease, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a49e2f903705449e70c58e681b78c6
https://pubmed.ncbi.nlm.nih.gov/35466954 -
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المؤلفون: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Miroslav P. Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O. Day, Lucy McGavin, Christine Rowley, Gaurav V. Harlalka, Valerie E. Vancollie, Wasim Ahmad, Christopher J. Lelliott, Asma Gul, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple
المساهمون: Rawlins, Lettie E [0000-0002-6764-253X], Almousa, Hashem [0000-0003-2679-5350], Collins, Stephan C [0000-0002-1533-3380], Leslie, Joseph [0000-0003-0972-8818], Saint-Dic, Djenann [0000-0001-9328-7108], Khan, Valeed [0000-0002-3840-5439], Day, Jacob O [0000-0002-6020-510X], Harlalka, Gaurav V [0000-0001-8968-2447], Vancollie, Valerie E [0000-0003-1547-1975], Lelliott, Christopher J [0000-0001-8087-4530], Yalcin, Binnaz [0000-0002-1924-6807], Crosby, Andrew H [0000-0003-3667-9054], Sacher, Michael [0000-0003-2926-5064], Baple, Emma L [0000-0002-6637-3411], Apollo - University of Cambridge Repository, University of Exeter Medical School, University of Exeter, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Concordia University [Montreal], International Islamic University [Islamabad, Pakistan] (2IU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Rehman Medical Institute [Peshawar, Pakistan] (RMI), Plymouth University, University Hospitals Plymouth NHS Trust [Plymouth, UK] (UHP), The Wellcome Trust Sanger Institute [Cambridge], Rajarshi Shahu College of Pharmacy [Malvihir, Buldana, India] (RSCP), Quaid-i-Azam University (QAU), McGill University = Université McGill [Montréal, Canada], Dupuis, Christine
المصدر: PLoS Genetics
PLoS Genetics, 2022, 18 (3), pp.e1010114. ⟨10.1371/journal.pgen.1010114⟩مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Cancer Research, Mice, Phenotype, Neurodevelopmental Disorders, [SDV]Life Sciences [q-bio], Genetics, Microcephaly, Animals, Humans, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics
وصف الملف: application/pdf
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المؤلفون: Jacob O. Day, Stephen Mullin
المصدر: Genes, Vol 12, Iss 1006, p 1006 (2021)
Genesمصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, precision medicine, Penetrance, polygenic, Disease, Review, QH426-470, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, monogenic, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetics (clinical), clinical trials, business.industry, Clinical study design, Parkinson Disease, medicine.disease, Precision medicine, Clinical trial, Clinical Practice, 030104 developmental biology, Mutation, Parkinson’s disease, business, 030217 neurology & neurosurgery, Familial disease
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المؤلفون: Tamsin Ford, Ali J. Chakera, Maggie Shepherd, Bridget A. Knight, Pamela Bowman, Andrew T. Hattersley, L. Torrens, Adam Zeman, Sarah E. Flanagan, Jacob O. Day
المصدر: Diabetes Care. 42:215-224
مصطلحات موضوعية: Adult, Central Nervous System, Male, Pediatrics, medicine.medical_specialty, endocrine system diseases, Adolescent, Autism Spectrum Disorder, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Neurological examination, Article, Young Adult, 03 medical and health sciences, Diabetes mellitus genetics, Cognition, 0302 clinical medicine, Diabetes mellitus, Diabetes Mellitus, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Potassium Channels, Inwardly Rectifying, Young adult, Neurologic Examination, Advanced and Specialized Nursing, Behavior, medicine.diagnostic_test, Working memory, business.industry, Infant, Newborn, Neuropsychology, Brain, nutritional and metabolic diseases, Middle Aged, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Autism spectrum disorder, Mutation, Female, Nervous System Diseases, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147dc6484e72987d5ab6ed8bb4f68026
https://doi.org/10.2337/dc18-1060 -
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المؤلفون: Pragnesh Bhatt, Jacob O. Day
المصدر: BMJ (Clinical research ed.). 359
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hyperreflexia, 03 medical and health sciences, 0302 clinical medicine, Vertigo, medicine, Headache Disorders, Secondary, Humans, Paresthesia, Chiari malformation, medicine.diagnostic_test, biology, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease, biology.organism_classification, Magnetic Resonance Imaging, Sagittal plane, Syringomyelia, Arnold-Chiari Malformation, medicine.anatomical_structure, Spinal Cord, 030220 oncology & carcinogenesis, Cervical Vertebrae, Radiology, Headaches, medicine.symptom, business, 030217 neurology & neurosurgery, Cervical vertebrae
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المؤلفون: Clare Day, Jacob O. Day, Tristan Day
المصدر: BMJ. :j1200
مصطلحات موضوعية: musculoskeletal diseases, medicine.anatomical_structure, business.industry, Nail (anatomy), Dentistry, Medicine, General Medicine, skin and connective tissue diseases, business, human activities, humanities, Transverse ridging
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المؤلفون: Andrew T. Hattersley, Jacob O. Day, M. Shepherd, Ali J. Chakera, Pamela Bowman, L. Torrens, Adam Zeman
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 87:e1.195-e1
مصطلحات موضوعية: Cerebellum, Neocortex, endocrine system diseases, Neuropsychology, nutritional and metabolic diseases, Human brain, medicine.disease, Bioinformatics, Phenotype, Pathogenesis, Psychiatry and Mental health, medicine.anatomical_structure, Intellectual disability, medicine, Surgery, Neurology (clinical), Psychology, Neuroscience, Gene