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المؤلفون: Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery
المساهمون: Murley, Alexander G [0000-0003-0813-0670], Apollo - University of Cambridge Repository
مصطلحات موضوعية: 2 Aetiology, Aging, Prevention, FOS: Clinical medicine, Human Genome, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Transmissible Spongiform Encephalopathy (TSE), FOS: Health sciences, Neurodegenerative, Alzheimer's Disease, 3105 Genetics, Brain Disorders, Rare Diseases, Infectious Diseases, Emerging Infectious Diseases, FOS: Biological sciences, Neurological, Acquired Cognitive Impairment, Genetics, 2.1 Biological and endogenous factors, Dementia, Neurology (clinical), Genetics (clinical), 31 Biological Sciences
وصف الملف: application/octet-stream; image/tiff; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c2bf1b04c25682b557a16d276dec55Test
https://www.repository.cam.ac.uk/handle/1810/343417Test -
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المؤلفون: Ryan, David K, Karhunen, Ville, Su, Bowen, Traylor, Matthew, Richardson, Tom G, Burgess, Stephen, Tzoulaki, Ioanna, Gill, Dipender
المساهمون: Richardson, Tom G [0000-0002-7918-2040], Burgess, Stephen [0000-0001-5365-8760], Tzoulaki, Ioanna [0000-0002-4275-9328], Gill, Dipender [0000-0001-7312-7078], Apollo - University of Cambridge Repository
مصطلحات موضوعية: 2 Aetiology, 0604 Genetics, Aging, FOS: Clinical medicine, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Alzheimer's Disease, Cardiovascular, 3105 Genetics, Brain Disorders, FOS: Biological sciences, Hypertension, Neurological, Acquired Cognitive Impairment, Genetics, 2.1 Biological and endogenous factors, Dementia, Neurology (clinical), 1109 Neurosciences, Genetics (clinical), 31 Biological Sciences
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a63a01a2a32c64315e58b7f8f550351Test
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المؤلفون: Ali G. Gharavi, Gerald B. Appel, Andrew S. Bomback, Dina Ahram, Maddalena Marasa, David J. Cohen, Emily E. Groopman, Simone Sanna-Cherchi, S. Ali Husain, Heather Morris, Maya K. Rao, Wooin Ahn, Geoffrey K. Dube, Pietro A. Canetta, Jai Radhakrishnan, Natalie Vena, Hilda Fernandez, Russell J. Crew, Kelsie Bogyo, Krzysztof Kiryluk, Jordan G. Nestor, Hila Milo-Rasouly, Vimla Aggarwal, Sumit Mohan
المصدر: Clin J Am Soc Nephrol
مصطلحات موضوعية: Male, Heredity, Epidemiology, Pilot Projects, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, Workflow, 0302 clinical medicine, Kidneys--Diseases--Treatment, Child, Referral and Consultation, Biological Specimen Banks, 0303 health sciences, medicine.diagnostic_test, Genomics, Middle Aged, Prognosis, Biobank, Pedigree, Phenotype, Nephrology, Child, Preschool, Cohort, Human chromosome abnormalities--Diagnosis, Medical genetics, Female, Kidney Diseases, Kidneys--Diseases--Genetic aspects, Return of results, Cohort study, Adult, medicine.medical_specialty, Adolescent, Best practice, Genetic Counseling, Young Adult, 03 medical and health sciences, Predictive Value of Tests, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Retrospective Studies, 030304 developmental biology, Genetic testing, Patient Care Team, Transplantation, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Original Articles, FOS: Biological sciences, Family medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d5d6c0656b9c13220f565a4f33fba9Test
https://doi.org/10.2215/cjn.12481019Test -
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المؤلفون: Ricardo L.R. Souza, Cristiane Benincá, Bruno Augusto Telles, Massimo Zeviani, Vanessa Zanette, Mara Lúcia Schmitz Ferreira Santos, Mark H. Johnson, Daniel Almeida do Valle, Alan J. Robinson, Vaneisse Monteiro, Aurelio Reyes
المساهمون: Zanette, Vanessa [0000-0001-7933-860X], Reyes, Aurelio [0000-0003-4480-2286], Robinson, Alan J [0000-0001-9943-0059], Monteiro, Vaneisse [0000-0003-4062-4638], Telles, Bruno Augusto [0000-0002-1177-8091], Zeviani, Massimo [0000-0002-9067-5508], Apollo - University of Cambridge Repository
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, Biology, Neurodegenerative, Compound heterozygosity, medicine.disease_cause, Article, 3105 Genetics, Neonatal Progeroid Syndrome, 3102 Bioinformatics and Computational Biology, Neurodevelopmental disorder, Rare Diseases, medicine, Genetics, Missense mutation, 2.1 Biological and endogenous factors, Gene, Genetics (clinical), 2 Aetiology, Mutation, FOS: Clinical medicine, Neurosciences, medicine.disease, Molecular biology, Hypotonia, FOS: Biological sciences, RNA splicing, Neurology (clinical), medicine.symptom, 31 Biological Sciences, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3979e3dab15f364bdf241fc1e2f2c0a5Test
https://www.repository.cam.ac.uk/handle/1810/312664Test -
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المساهمون: Green, Tony [0000-0002-9795-0218], Apollo - University of Cambridge Repository
المصدر: HemaSphere, Vol 4, Iss 1, p e333 (2020)
HemaSphereمصطلحات موضوعية: Lineage (genetic), Mutant, 32 Biomedical and Clinical Sciences, Review Article, Rare Diseases, medicine, Genetics, 2.1 Biological and endogenous factors, Myelofibrosis, Cancer, Thrombopoietin receptor, 2 Aetiology, Janus kinase 2, biology, lcsh:RC633-647.5, lcsh:Diseases of the blood and blood-forming organs, Hematology, medicine.disease, Haematopoiesis, 3201 Cardiovascular Medicine and Haematology, FOS: Biological sciences, biology.protein, Cancer research, Stem cell, Calreticulin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e1cd7c60fa53e90f21ef3e3f69cda2Test
https://www.repository.cam.ac.uk/handle/1810/301791Test -
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المؤلفون: Traylor, Matthew, Rutten-Jacobs, Loes, Curtis, Charles, Patel, Hamel, Breen, Gerome, Newhouse, Stephen, Lewis, Cathryn M, Markus, Hugh S
المساهمون: Traylor, Matthew [0000-0001-6624-8621], Jacobs, Loes [0000-0003-3223-885X], Markus, Hugh [0000-0002-9794-5996], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Stroke, 0604 Genetics, Clinical Research, FOS: Biological sciences, Human Genome, Genetics, 2.1 Biological and endogenous factors, cardiovascular diseases, 1117 Public Health and Health Services, Brain Disorders
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c0af84175134067a7fa1a54895b964Test
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المؤلفون: Vardarajan, Badri N, Tosto, Giuseppe, Lefort, Roger, Yu, Lei, Bennett, David A, De Jager, Philip L, Barral, Sandra, Reyes-Dumeyer, Dolly, Nagy, Peter L, Lee, Joseph H, Cheng, Rong, Medrano, Martin, Lantigua, Rafael, Rogaeva, Ekaterina, St George-Hyslop, Peter, Mayeux, Richard
المساهمون: St George-Hyslop, Peter [0000-0003-0796-7209], Apollo - University of Cambridge Repository
مصطلحات موضوعية: 0604 Genetics, Clinical Research, FOS: Biological sciences, Human Genome, Genetics, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Dementia, Brain Disorders
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb8e5975ee6fbf1fbad089e2091ee7dTest
https://www.repository.cam.ac.uk/handle/1810/274210Test -
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المؤلفون: Regina M. Carney, Badri N. Vardarajan, Holly N. Cukier, Michael L. Cuccaro, Yalun Zhang, Brian W. Kunkle, Peter St George-Hyslop, Patrice L. Whitehead, Christopher Bohm, Margaret A. Pericak-Vance, Richard Mayeux
المساهمون: St George-Hyslop, Peter [0000-0003-0796-7209], Apollo - University of Cambridge Repository
المصدر: Neurology: Genetics
مصطلحات موضوعية: 0301 basic medicine, Aging, Biomedical, SORL1, Neurodegenerative, Bioinformatics, Alzheimer's Disease, Article, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Basic Science, Clinical Research, medicine, Amyloid precursor protein, Genetics, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Receptor, Gene, Genetics (clinical), biology, business.industry, FOS: Clinical medicine, Human Genome, Neurosciences, Late Onset Alzheimer Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), medicine.disease, Phenotype, Brain Disorders, 030104 developmental biology, FOS: Biological sciences, Neurological, biology.protein, Dementia, Neurology (clinical), Alzheimer's disease, business, 1109 Neurosciences, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999b0d69fdc350768f737b1ea49f3534Test
https://www.repository.cam.ac.uk/handle/1810/288954Test -
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المؤلفون: Lewis-Smith, DJ, Duff, J, Pyle, A, Griffin, H, Polvikoski, T, Birchall, D, Horvath, R, Chinnery, PF
المساهمون: Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository
مصطلحات موضوعية: 0604 Genetics, Clinical Medicine and Science, Biomedical, Clinical Research, FOS: Clinical medicine, FOS: Biological sciences, Human Genome, Neurosciences, Genetics, 2.1 Biological and endogenous factors, Peripheral Neuropathy, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ef52561c81c6db53b448ee0a515e8cTest
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المؤلفون: Emma Shepard, John L.P. Thompson, Johnston Grier, Michio Hirano, Amel Karaa
المصدر: Neurology Genetics. 4:e230
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Biometry, Neurology, business.industry, Mitochondrial disease, Primary care physician, Disease, Mitochondrial pathology, medicine.disease, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Clinical research, FOS: Biological sciences, Internal medicine, Genetics, medicine, Patient-reported outcome, Neurology (clinical), Medical diagnosis, business, Genetics (clinical), Urine organic acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::216199d467295b546484eca3b8e77dd1Test
https://doi.org/10.1212/nxg.0000000000000230Test
