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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe0471cd48af28f57e2acfe6eec3b83
https://doi.org/10.1212/wnl.0b013e3181af33bd