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1دورية أكاديمية
المؤلفون: Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot-Bastaraud, Sandra, Beneteau, Claire, Denis-Musquer, Marie, Turnpenny, Peter D, Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban-Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, CABERG, Jean-Hubert, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara
المصدر: Clinical Genetics, 102 (2), 117 - 122 (2022-08)
مصطلحات موضوعية: BRD4, BRD4-related syndrome, Cornelia de Lange syndrome, NIPBL, cohesinopathy, BRD4 protein, human, Cell Cycle Proteins, Nuclear Proteins, Transcription Factors, Cell Cycle Proteins/genetics, Child, Female, Genomics, Humans, Mutation, Phenotype, Pregnancy, Transcription Factors/genetics, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, De Lange Syndrome/pathology, Nuclear Proteins/genetics, De Lange Syndrome, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14141; urn:issn:0009-9163; urn:issn:1399-0004
URL الوصول: https://orbi.uliege.be/handle/2268/298272
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2
المؤلفون: Schoumans, Jacqueline, Wincent, Josephine, Barbaro, Michela, Djureinovic, Tatjana, Maguire, Paula, Forsberg, Lena, Staaf, Johan, Thuresson, Ann-Charlotte, Borg, Åke, Nordgren, Ann, Malm, Gunilla, Anderlid, Britt Marie
المصدر: European Journal of Human Genetics. 15(2):143-149
مصطلحات موضوعية: 5' Untranslated Regions/genetics, Adolescent, Cell Cycle Proteins/*genetics, Child, Chromosomal Instability, Chromosomal Proteins, Non-Histone/*genetics, Chromosomes, Human, Pair 9/genetics, Cohort Studies, DNA Mutational Analysis, De Lange Syndrome/*genetics, Female, Humans, Male, Mutation, Nucleic Acid Hybridization, Phenotype, Proteins/*genetics, Sweden, MEDICINE, MEDICIN
وصف الملف: print
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3
المؤلفون: Noel F C C de Miranda, Elin Enervald, Lennart Hammarström, Anne Durandy, Sven Kracker, Lena Ström, Josephine Wincent, Valérie Cormier-Daire, Torkild Visnes, Dik C. van Gent, Andrea Björkman, Jacqueline Schoumans, Juan Pié, Likun Du, Guntram Borck, Qiang Pan-Hammarström, Laurence Colleaux, Jean-Pierre de Villartay, Beatriz Puisac, Emma Lindgren
المساهمون: European Molecular Biology Laboratory, Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Department of Mathematical Sciences, Norwegian University of Science and Technology [Trondheim] (NTNU), Norwegian University of Science and Technology (NTNU)-Norwegian University of Science and Technology (NTNU), Universität Ulm - Ulm University [Ulm, Allemagne], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Molecular Genetics
المصدر: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2013, 210 (12), pp.2503-2513. ⟨10.1084/jem.20130168⟩
Journal of Experimental Medicine, 210(12), 2503-2513. Rockefeller University Press
The Journal of Experimental Medicine
The Journal of experimental medicine, vol. 210, no. 12, pp. 2503-2513مصطلحات موضوعية: Heterozygote, DNA End-Joining Repair, Adolescent, Chromosomal Proteins, Non-Histone, Molecular Sequence Data, Immunology, Cell Cycle Proteins, B-Lymphocytes/immunology, B-Lymphocytes/metabolism, Base Sequence, Case-Control Studies, Cell Cycle Proteins/metabolism, Cell Line, Child, Child, Preschool, Chromosomal Proteins, Non-Histone/metabolism, DNA/genetics, DNA/metabolism, DNA Breaks, Double-Stranded, De Lange Syndrome/genetics, De Lange Syndrome/immunology, De Lange Syndrome/metabolism, Humans, Immunoglobulin Class Switching, Infant, Intracellular Signaling Peptides and Proteins/metabolism, Mutation, Proteins/genetics, Proteins/metabolism, Saccharomyces cerevisiae/genetics, Saccharomyces cerevisiae/metabolism, Tumor Suppressor p53-Binding Protein 1, Saccharomyces cerevisiae, Biology, Immunoglobulin Class Switch Recombination, 03 medical and health sciences, 0302 clinical medicine, De Lange Syndrome, Immunology and Allergy, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Genetics, Cohesin loading, B-Lymphocytes, 0303 health sciences, Cohesin, fungi, V(D)J recombination, Brief Definitive Report, Intracellular Signaling Peptides and Proteins, Proteins, NIPBL, DNA, 3. Good health, Establishment of sister chromatid cohesion, Non-homologous end joining, enzymes and coenzymes (carbohydrates), [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biological phenomena, cell phenomena, and immunity, Homologous recombination, 030215 immunology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e11bf4b4a353b6e802ddd7cbdb8cd9
https://hal.archives-ouvertes.fr/hal-02142266 -
4مورد إلكتروني
مصطلحات الفهرس: 5' Untranslated Regions/genetics, Adolescent, Cell Cycle Proteins/*genetics, Child, Chromosomal Instability, Chromosomal Proteins; Non-Histone/*genetics, Chromosomes; Human; Pair 9/genetics, Cohort Studies, DNA Mutational Analysis, De Lange Syndrome/*genetics, Female, Humans, Male, Mutation, Nucleic Acid Hybridization, Phenotype, Proteins/*genetics, Sweden, Medical and Health Sciences, Medicin och hälsovetenskap, Article in journal, info:eu-repo/semantics/article, text
URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-11135
European Journal of Human Genetics, 1018-4813, 2007, 15:2, s. 143-149