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المؤلفون: A Reiman, V Srinivasan, G Barone, J I Last, L L Wootton, E G Davies, M M Verhagen, M A Willemsen, C M Weemaes, P J Byrd, L Izatt, D F Easton, D J Thompson, A M Taylor
المصدر: British Journal of Cancer
British Journal of Cancer, 105, 586-91
British Journal of Cancer, 105, 4, pp. 586-91مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Adolescent, Lymphoma, Immunoblotting, Breast Neoplasms, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Kaplan-Meier Estimate, Biology, Protein Serine-Threonine Kinases, Auto-immunity, transplantation and immunotherapy [N4i 4], Tumor suppressor proteins, Ataxia Telangiectasia, Young Adult, Breast cancer, breast cancer, Neoplasms, medicine, Humans, skin and connective tissue diseases, Child, Netherlands, Brain Neoplasms, Tumor Suppressor Proteins, Genetics and Genomics, medicine.disease, Atm kinase, United Kingdom, DNA-Binding Proteins, Leukemia, Oncology, ATM, Ataxia-telangiectasia, Mutation, Cancer research, Female, ATM kinase, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ff12348813b67c306f369d90f14de54Test
http://europepmc.org/articles/PMC3170966Test -
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المؤلفون: M.M.M. Verhagen, W. F. Abdo, M. A.A.P. Willemsen, F. B.L. Hogervorst, D. F.C.M. Smeets, J. A.P. Hiel, E. R. Brunt, M. A. van Rijn, D. Majoor Krakauer, R. A. Oldenburg, A. Broeks, J. I. Last, L. J. van't Veer, M. A.J. Tijssen, A. M.I. Dubois, H. P.H. Kremer, C. M.R. Weemaes, A. M.R. Taylor, M. van Deuren
المساهمون: Amsterdam Neuroscience, Neurology, Pharmacy, Clinical Genetics
المصدر: Neurology, 73, 6, pp. 430-7
Neurology, 73(6), 430-437. Lippincott Williams and Wilkins
Neurology, 73(6), 430-437. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 73, 430-7
Neurology, 73(6), 430-437. Lippincott Williams & Wilkinsمصطلحات موضوعية: Adult, Male, EXPRESSION, Pathology, medicine.medical_specialty, VARIANT, Biology, medicine.disease_cause, PHENOTYPE, Genomic disorders and inherited multi-system disorders [IGMD 3], Ataxia Telangiectasia, Young Adult, SDG 3 - Good Health and Well-being, Chromosome instability, Genotype, medicine, KINASE, Perception and Action [DCN 1], Humans, Missense mutation, Kinase activity, Retrospective Studies, Chromosome 7 (human), Mutation, Cerebellar ataxia, Age Factors, Genetic Variation, Middle Aged, medicine.disease, ATM MUTATIONS, GENE, CANCER, GENOTYPE, 5762INS137, Pathogenesis and modulation of inflammation [N4i 1], Ataxia-telangiectasia, CELLS, Cancer research, Female, Neurology (clinical), medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe0471cd48af28f57e2acfe6eec3b83Test
https://doi.org/10.1212/wnl.0b013e3181af33bdTest -
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المؤلفون: A M R, Taylor, Z, Lam, J I, Last, P J, Byrd
المصدر: Clinical genetics. 87(3)
مصطلحات موضوعية: MRE11 Homologue Protein, Ubiquitin-Protein Ligases, Ataxia Telangiectasia Mutated Proteins, DNA-Binding Proteins, Enzyme Activation, Ataxia Telangiectasia, Genetic Heterogeneity, Phenotype, Neoplasms, Mutation, Disease Progression, Humans, Age of Onset, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6b5e6d603cc91ab473a1351149096f64Test
https://pubmed.ncbi.nlm.nih.gov/25040471Test -
4Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia
المؤلفون: P J Byrd, V Srinivasan, J I Last, A Smith, P Biggs, E F Carney, A Exley, C Abson, G S Stewart, L Izatt, A M Taylor
المصدر: British Journal of Cancer
مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Ataxia, medicine.medical_treatment, Breast Neoplasms, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Biology, Protein Serine-Threonine Kinases, Radiation Tolerance, Ataxia Telangiectasia, Breast cancer, breast cancer, medicine, Missense mutation, Humans, Kinase activity, radiotherapy, Tumor Suppressor Proteins, Middle Aged, medicine.disease, Radiation therapy, DNA-Binding Proteins, Oncology, radiosensitivity, ATM, Ataxia-telangiectasia, Mutation, Cancer research, Clinical Study, Female, medicine.symptom, Ataxia telangiectasia and Rad3 related
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8567b9212686ca3f6b1949b19504df5fTest
https://pubmed.ncbi.nlm.nih.gov/22146522Test -
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المؤلفون: J.A.P. Hiel, B. G.M. van Engelen, C. M.R. Weemaes, A. Broeks, A. Verrips, H. ter Laak, H. M. Vingerhoets, L. P.W. van den Heuvel, M. Lammens, F. J.M. Gabreels, J. I. Last, A. M.R. Taylor
المصدر: Neurology, 67, 2, pp. 346-9
Neurology, 67, 346-9مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Eye disease, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, Central nervous system disease, Genomic disorders and inherited multi-system disorders [IGMD 3], Muscular Atrophy, Spinal, Ataxia Telangiectasia, Degenerative disease, Anterior Horn Cell, Translational research [ONCOL 3], Perception and Action [DCN 1], Medicine, Humans, Genetic Predisposition to Disease, Renal disorder [IGMD 9], Human Movement & Fatigue [NCEBP 10], Cerebellar ataxia, business.industry, Vascular disease, Tumor Suppressor Proteins, medicine.disease, Pathogenesis and modulation of inflammation [N4i 1], DNA-Binding Proteins, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Growth and differentiation [NCMLS 3], Ataxia-telangiectasia, Neuromuscular Development and genetic Disorders [UMCN 3.1], Female, Neurology (clinical), medicine.symptom, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ec6b5989a2061b4af0a81840cdd831Test
https://doi.org/10.1212/01.wnl.0000224878.22821.23Test -
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المؤلفون: C. Albertyn, N. Cawley, A. T. M. Taylor, V. Srinivasan, J. I. Last, R. P. Murphy
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:e48-e48
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Mutation, Ataxia, business.industry, Blepharospasm, Focal dystonia, medicine.disease, Malignancy, medicine.disease_cause, Psychiatry and Mental health, Endocrinology, Chromosome instability, Internal medicine, Ataxia-telangiectasia, medicine, Surgery, Neurology (clinical), medicine.symptom, business, Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1178fa1049fabcf0e1e4c0ef4b22d94dTest
https://doi.org/10.1136/jnnp.2010.226340.124Test
