المؤلفون: Soellner, L, Begemann, M, Mackay, DJG, Grønskov, K, Tümer, Z, Maher, ER, Temple, IK, Monk, D, Riccio, A, Linglart, A, Netchine, I, Eggermann, T

مصطلحات موضوعية: epigenetic regulation, imprinting disorder, uniparental disomy, DNA Copy Number Variations, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn, Genetic Loci, Genetic Testing, Genomic Imprinting, Humans, Mutation

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/256980Test

الإتاحة: https://doi.org/10.17863/CAM.912Test
https://www.repository.cam.ac.uk/handle/1810/256980Test

المؤلفون: Soellner, L, Begemann, M, Mackay, D J G, Grønskov, K, Tümer, Z, Maher, E R, Temple, I K, Monk, D, Riccio, A, Linglart, A, Netchine, I, Eggermann, T

المصدر: Soellner , L , Begemann , M , Mackay , D J G , Grønskov , K , Tümer , Z , Maher , E R , Temple , I K , Monk , D , Riccio , A , Linglart , A , Netchine , I & Eggermann , T 2017 , ' Recent Advances in Imprinting Disorders ' , Clinical Genetics , vol. 91 , no. 1 , pp. 3-13 . https://doi.org/10.1111/cge.12827Test

مصطلحات موضوعية: DNA Copy Number Variations/genetics, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn/diagnosis, Genetic Loci/genetics, Genetic Testing/methods, Genomic Imprinting, Humans, Mutation, Uniparental Disomy/genetics

الإتاحة: https://doi.org/10.1111/cge.12827Test
https://curis.ku.dk/portal/da/publications/recent-advances-in-imprinting-disordersTest(762e349a-693a-4abc-97af-87a1963c489c).html

المؤلفون: Buysse, K, Crepel, An, Menten, B, Pattyn, F, Antonacci, F, Veltman, J A, Larsen, L A, Tümer, Z, de Klein, A, van de Laar, I, Devriendt, Koenraad, Mortier, G, Speleman, F

مصطلحات موضوعية: Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 5, Gene Deletion, Gene Duplication, Genomic Instability, Humans, Translocation, Genetic

العلاقة: Journal of Medical Genetics vol:45 issue:10 pages:672-678; https://lirias.kuleuven.be/handle/123456789/235924Test; http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=18628311Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/235924Test
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=18628311Test

المؤلفون: Cingoz, S, Bisgaard, A M, Bache, I, Bryndorf, T, Kirchoff, M, Petersen, W, Ropers, H-H, Maas, Nicole, Van Buggenhout, Griet, Tommerup, N, Tümer, Z

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Chromosomes, Human, Pair 10, Pair 4, Female, Humans, Immunologic Deficiency Syndromes, In Situ Hybridization, Fluorescence, Mental Retardation, Pedigree, Phenotype, Translocation, Genetic

العلاقة: American Journal of Medical Genetics A vol:140 issue:20 pages:2231-5; https://lirias.kuleuven.be/handle/123456789/244982Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/244982Test