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1دورية أكاديمية
المؤلفون: de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé‐pichon, Anne‐sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin, M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaëtan, Lynch, Sally-Ann, Mathijssen, Irene M.J., Mcgowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, J., Stegmann, Alexander, P. A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, M., Wéber, Mathys, Gilissen, Christian, Low, Karen, J., Fisher, Simon, E, Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
المساهمون: Radboud University Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Radboud Institute for Molecular Life Sciences Nijmegen, the Netherlands, Guy's and St Thomas' NHS Foundation Trust, Great Ormond Street Hospital for Children NHS Foundation Trust London, UK (GOSHC), Advocate Hope Children's Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène - Appui à la recherche (INMG-AR), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), New York University School of Medicine (NYU Grossman School of Medicine), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), St George’s University Hospitals, GeneDx Gaithersburg, MD, USA, FHU TRANSLAD (CHU de Dijon), University of Indianapolis, Erasmus University Medical Center Rotterdam (Erasmus MC), Indiana University School of Medicine, Indiana University System, Oxford University Hospitals NHS Trust, University of Oxford, Vall d’Hebron Research Institute (VHIR), Children's Health Ireland at Temple Street, Queen Elizabeth University Hospital (Glasgow), Radboud University Medical Center Nijmegen, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, University Hospitals Bristol, Department of Human Genetics Nijmegen, Donders Institute for Brain, Cognition and Behaviour, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.orgTest/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.htmlTest for full acknowledgment.
المصدر: ISSN: 1098-3600.
مصطلحات موضوعية: ANKRD11, Genotype–phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disorders, MESH: Abnormalities, Multiple, MESH: Bone Diseases, Developmental, MESH: Tooth Abnormalities, MESH: Transcription Factors, MESH: Chromosome Deletion, MESH: Facies, MESH: Humans, MESH: Intellectual Disability, MESH: Mutation, Missense, MESH: Phenotype, MESH: Proteasome Endopeptidase Complex, MESH: Repressor Proteins, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35833929; hal-03790568; https://univ-rennes.hal.science/hal-03790568Test; https://univ-rennes.hal.science/hal-03790568v2/documentTest; https://univ-rennes.hal.science/hal-03790568v2/file/1-s2.0-S1098360022008164-main.pdfTest; PUBMED: 35833929; WOS: 000879580900007
الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
https://univ-rennes.hal.science/hal-03790568Test
https://univ-rennes.hal.science/hal-03790568v2/documentTest
https://univ-rennes.hal.science/hal-03790568v2/file/1-s2.0-S1098360022008164-main.pdfTest -
2دورية أكاديمية
المؤلفون: Lomonte, Patrick, Morency, Eric
المساهمون: Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0014-5793.
مصطلحات موضوعية: MESH: Animals, MESH: Centromere Protein B, MESH: Hela Cells, MESH: Humans, MESH: Immediate-Early Proteins, MESH: Mice, MESH: NIH 3T3 Cells, MESH: Proteasome Endopeptidase Complex, MESH: Protein Processing, Post-Translational, MESH: Ubiquitin-Protein Ligases, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17258208; hal-00179319; https://hal.science/hal-00179319Test; PUBMED: 17258208
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3دورية أكاديمية
المؤلفون: Arrigo, André-Patrick
المساهمون: Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0767-0974.
مصطلحات موضوعية: MESH: Animals, MESH: Heat-Shock Proteins, MESH: Humans, MESH: Models, Molecular, MESH: Molecular Chaperones, MESH: Proteasome Endopeptidase Complex, MESH: Protein Conformation, MESH: Transcription, Genetic, MESH: Ubiquitin, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15985205; hal-00193419; https://hal.science/hal-00193419Test; PUBMED: 15985205
الإتاحة: https://hal.science/hal-00193419Test
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4دورية أكاديمية
المساهمون: Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0022-538X.
مصطلحات موضوعية: MESH: Adaptor Proteins, Signal Transducing, MESH: Animals, MESH: Neuropeptides, MESH: Oncogene Proteins, Viral, MESH: Papillomaviridae, MESH: Proteasome Endopeptidase Complex, MESH: Protein Binding, MESH: Protein Interaction Mapping, MESH: Protein Structure, Tertiary, MESH: RNA Interference, MESH: RNA, Small Interfering, MESH: Signal Transduction, MESH: COS Cells, MESH: Transforming Growth Factor beta, MESH: Ubiquitin, MESH: Carrier Proteins, MESH: Cell Line, MESH: Cell Proliferation, MESH: DNA-Binding Proteins, MESH: Gene Silencing, MESH: Hela Cells, MESH: Humans, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15767424; hal-00193769; https://hal.science/hal-00193769Test; PUBMED: 15767424; PUBMEDCENTRAL: PMC1061528
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5دورية أكاديمية
المؤلفون: Kretz-Remy, Carole, Arrigo, André-Patrick
المساهمون: Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1431-6730.
مصطلحات موضوعية: MESH: Antioxidants, MESH: Chymotrypsin, MESH: Indicators and Reagents, MESH: Multienzyme Complexes, MESH: Oligopeptides, MESH: Oxidation-Reduction, MESH: Precipitin Tests, MESH: Proteasome Endopeptidase Complex, MESH: Reactive Oxygen Species, MESH: Coumarins, MESH: Cysteine Endopeptidases, MESH: Electrophoresis, Polyacrylamide Gel, MESH: Gene Expression Regulation, Enzymologic, MESH: Glutathione Peroxidase, MESH: Hela Cells, MESH: Humans, MESH: Immunoblotting, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12751788; hal-00193440; https://hal.science/hal-00193440Test; PUBMED: 12751788
الإتاحة: https://hal.science/hal-00193440Test