المؤلفون: Labreche, K, Kinnersley, B, Berzero, G, Di Stefano, AL, Rahimian, A, Detrait, I, Marie, Y, Grenier-Boley, B, Hoang-Xuan, K, Delattre, J-Y, Idbaih, A, Houlston, RS, Sanson, M

المساهمون: Kinnersley, Benjamin, Houlston, Richard

مصطلحات موضوعية: Chromosomes, Human, Pair 1, Pair 19, Humans, Glioma, Brain Neoplasms, Genetic Predisposition to Disease, Isocitrate Dehydrogenase, Telomerase, Proto-Oncogene Proteins c-myc, RNA, Messenger, Case-Control Studies, Mutation, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Stathmin, Promoter Regions, Genetic, Genetic Loci, Genetic Association Studies, Preliminary Data

وصف الملف: Print-Electronic; 755; application/pdf

العلاقة: Acta neuropathologica, 2018, 135 (5), pp. 743 - 755; https://repository.icr.ac.uk/handle/internal/1624Test

الإتاحة: https://doi.org/10.1007/s00401-018-1825-zTest
https://repository.icr.ac.uk/handle/internal/1624Test

المؤلفون: S. Bianchi, A. Rufa, M. Ragno, C. D'Eramo, F. Pescini, L. Pantoni, A. Cappelli, A. Perretti, E. Zicari, P. Zolo, D. Inzitari, M. T. Dotti, A. Federico

المساهمون: S. Bianchi, A. Rufa, M. Ragno, C. D'Eramo, F. Pescini, L. Pantoni, A. Cappelli, A. Perretti, E. Zicari, P. Zolo, D. Inzitari, M.T. Dotti, A. Federico

مصطلحات موضوعية: Adult, Aged, 80 and over, CADASIL, Cohort Studie, DNA Mutational Analysi, European Continental Ancestry Group, Family, Female, Human, Italy, Male, Middle Aged, Pedigree, Receptor, Notch3, Receptors, Notch, Exon, Mutation, Phenotype, Neurology, Neurology (clinical), Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20169447; info:eu-repo/semantics/altIdentifier/wos/WOS:000278155400024; volume:257; issue:6; firstpage:1039; lastpage:1042; numberofpages:4; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/2434/551862Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77954427709

الإتاحة: https://doi.org/10.1007/s00415-010-5481-zTest
http://hdl.handle.net/2434/551862Test

المؤلفون: Ugur Ozbek, Muge Aydin-Sayitoglu, Sema Sirma, Cemaliye B Akyerli, Tayfun Ozcelik

المصدر: Journal of Cancer Research and Clinical Oncology

مصطلحات موضوعية: Cancer Research, Protein MYH, Unclassified drug, Turkey, Glycine, DNA repair, Childhood leukemia, Major clinical study, Myh gene, Biology, Acute lymphoblastic leukemia, Gene, White People, Article, Turkey (republic), DNA Glycosylases, Mismatch repair, Cancer risk, MUTYH, Humans, Missense mutation, Cysteine, Child, Priority journal, Genetics, DNA, neoplasm, Genetic variants, Leukemia, myelocytic, acute, DNA, Neoplasm, General Medicine, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Acute granulocytic leukemia, Leukemia, Myeloid, Acute, Oncology, DNA glycosylases, United kingdom, Mutation, Aspartic acid, Tyrosine, Excision repair, Mutant protein, Leukemia, lymphocytic, acute, Controlled study, Human, European continental ancestry group

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e87374daa711ee6dc03d1c2f162398aTest
https://hdl.handle.net/11693/24423Test

المؤلفون: Møller, A M, Ek, J, Durviaux, S M, Urhammer, SA, Clausen, J O, Eiberg, H, Hansen, T, Rousseau, Guy, Lemaigre, Frédéric, Pedersen, O

المساهمون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire

المصدر: Diabetologia : clinical and experimental diabetes and metabolism, Vol. 42, no. 8, p. 1011-1016 (1999)

مصطلحات موضوعية: Adult, Alanine, Alleles, Amino Acid Substitution, Chromosome Mapping, Chromosomes, Human, Pair 15, Cloning, Molecular, Diabetes Mellitus, Type 2, European Continental Ancestry Group, Exons, Female, Gene Frequency, Genetic Variation, Hepatocyte Nuclear Factor 6, Homeodomain Proteins, Humans, Insulin, Introns, Male, Middle Aged, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Proline, Registries

العلاقة: boreal:21593; http://hdl.handle.net/2078.1/21593Test; info:pmid/10491763; urn:ISSN:0012-186X; urn:EISSN:1432-0428

الإتاحة: http://hdl.handle.net/2078.1/21593Test