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

المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, Andrea, Linglart, A., Netchine, I., Eggermann, T.

المصدر: Clinical genetics 91 (2016): 3–13. doi:10.1111/cge.12827
info:cnr-pdr/source/autori:Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T./titolo:Recent Advances in Imprinting Disorders./doi:10.1111%2Fcge.12827/rivista:Clinical genetics/anno:2016/pagina_da:3/pagina_a:13/intervallo_pagine:3–13/volume:91

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

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491f24a99ddfbe37cc59c46f7157108dTest

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: Boyle, M I, Jespersgaard, C, Brøndum-Nielsen, K, Bisgaard, A-M, Tümer, Z

المصدر: Boyle , M I , Jespersgaard , C , Brøndum-Nielsen , K , Bisgaard , A-M & Tümer , Z 2015 , ' Cornelia de Lange syndrome ' , Clinical Genetics , vol. 88 , no. 1 , 12499 , pp. 1-12 . https://doi.org/10.1111/cge.12499Test

مصطلحات موضوعية: Cell Cycle Proteins, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Female, Histone Deacetylases, Humans, Male, Mutation, Nuclear Proteins, Phenotype, Phosphoproteins, Proteins, Repressor Proteins

الإتاحة: https://doi.org/10.1111/cge.12499Test
https://curis.ku.dk/portal/da/publications/cornelia-de-lange-syndromeTest(d73beda7-39f8-479f-8593-df8f704f20f2).html

المؤلفون: Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M

المصدر: Dlugaszewska , B , Silahtaroglu , A , Menzel , C , Kübart , S , Cohen , M , Mundlos , S , Tümer , Z , Kjær , K W , Friedrich , U , Ropers , H-H , Tommerup , N , Neitzel , H & Kalscheuer , V M 2006 , ' Breakpoints around the HOXD cluster result in various limb malformations ' , Journal of Medical Genetics , vol. 43 , no. 2 , pp. 111-118 . https://doi.org/10.1136/jmg.2005.033555Test

مصطلحات موضوعية: Adolescent, Adult, Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 2, Computational Biology, Female, Homeodomain Proteins, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Limb Deformities, Congenital, Male, Multigene Family, Mutation, Transcription Factors

الإتاحة: https://doi.org/10.1136/jmg.2005.033555Test
https://curis.ku.dk/portal/da/publications/breakpoints-around-the-hoxd-cluster-result-in-various-limb-malformationsTest(d5d6ec90-70eb-11dc-bee9-02004c4f4f50).html

المؤلفون: Tümer Z, Lisbeth Møller, Horn N

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adenosine Triphosphatases, Mice, Phenotype, Genotype, Copper-Transporting ATPases, Recombinant Fusion Proteins, Mutation, Animals, Humans, Carrier Proteins, Menkes Kinky Hair Syndrome, Cation Transport Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7116aab89a1556b1012eb49247601ebaTest
https://pubmed.ncbi.nlm.nih.gov/10079817Test