-
1دورية أكاديمية
المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: IFT140, skeletal ciliopathy, cilium phenotype, MZSDS-like features, CED-like features, Genetics, QH426-470
وصف الملف: electronic resource
-
2
المؤلفون: Ronald van Beek, Dorien Lugtenberg, Cenna Doornbos, Machteld M. Oud, Ronald Roepman, Lisenka E.L.M. Vissers, Peter H.M. Klaren, Ernie M.H.F. Bongers
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 29, 1677-1689
European Journal of Human Genetics, 29, pp. 1677-1689مصطلحات موضوعية: Pathology, medicine.medical_specialty, Diseases, Biology, Immunofluorescence, Sensitivity and Specificity, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Genetic Heterogeneity, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intraflagellar transport, Ciliogenesis, Genetics research, Genetics, medicine, Humans, Cilia, Genetic Testing, Ciliary tip, Cells, Cultured, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic counselling, medicine.diagnostic_test, Cilium, 030305 genetics & heredity, High-throughput screening, Translational research, Fibroblasts, medicine.disease, Phenotype, High-Throughput Screening Assays, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Organismal Animal Physiology, sense organs
وصف الملف: application/pdf
-
3
المؤلفون: Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud
المصدر: Frontiers in genetics. 13
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e68082aacf038418306d3958dd84b6e
https://pubmed.ncbi.nlm.nih.gov/35873489 -
4
المؤلفون: Ronald van Beek, Caroline Schluth-Bolard, Jean Michel Dupont, Tuomo Mantere, Michiel Oorsprong, Alexander Hoischen, Marc Pauper, Dominique Smeets, Kornelia Neveling, Laila El Khattabi, Céline Pebrel-Richard, Marion Benoist, Marian Stevens-Kroef, Aziza Lebbar, Tony Yammine, Imane Baatout, Faten Hsoumi, Guillaume van der Zande, Damien Sanlaville, Ellen Kater-Baats, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen
المصدر: American Journal of Human Genetics, 108, 8, pp. 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422مصطلحات موضوعية: medicine.medical_specialty, DNA Copy Number Variations, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Ring chromosome, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Chromosome Disorders, Computational biology, Biology, Article, All institutes and research themes of the Radboud University Medical Center, Gene mapping, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Chromosome Aberrations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Breakpoint, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cytogenetics, Chromosome Mapping, Karyotype, Microarray Analysis, Karyotyping, Cytogenetic Analysis, Human genome, DNA microarray
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61049c35b3e99e012cc69e4f06a0f35
https://repository.ubn.ru.nl/handle/2066/236917 -
5
المؤلفون: Marian Stevens-Kroef, Susan Vermeulen, Ellen Kater-Baats, Guillaume van der Zande, Michiel Oorsprong, Tuomo Mantere, Dominique Smeets, Kornelia Neveling, Marc Pauper, Daniel Olde Weghuis, Alexander Hoischen, Ronald van Beek
المصدر: American Journal of Human Genetics, 108, 8, pp. 1423-1435
Am J Hum Genet
American Journal of Human Genetics, 108, 1423-1435مصطلحات موضوعية: medicine.medical_specialty, DNA Copy Number Variations, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Concordance, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Computational biology, Biology, Genome, Article, All institutes and research themes of the Radboud University Medical Center, Gene mapping, Genetics, medicine, Humans, Genetics (clinical), Chromosome Aberrations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cytogenetics, Chromosome Mapping, Karyotype, Microarray Analysis, Hematological malignancy, Hematologic Neoplasms, Karyotyping, Cytogenetic Analysis, Cancer development, DNA microarray
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d6de5b18c4305f347335ecc28c81fe
https://doi.org/10.1016/j.ajhg.2021.06.001 -
6
المؤلفون: Tuomo Mantere, Laila El Khattabi, Céline Pebrel-Richard, Alexander Hoischen, Marian Stevens-Kroef, Susan Vermeulen, Caroline Schluth-Bolard, Tony Yammine, Michiel Oorsprong, Marion Benoist, Aziza Lebbar, Dominique Smeets, Kornelia Neveling, Ronald van Beek, Jean Michel Dupont, Damien Sanlaville, Guillaume van der Zande, Marc Pauper, Ellen Kater-Baats, Daniel Olde-Weghuis, Imane Baatout, Wed Majdali
مصطلحات موضوعية: genomic DNA, medicine.medical_specialty, Ring chromosome, Cytogenetics, medicine, Context (language use), Genomics, Karyotype, Computational biology, Copy-number variation, Biology, Genome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3de8e5628ea67fb1ec3cfa08a4a03583
https://doi.org/10.1101/2020.07.15.205245 -
7
المؤلفون: Marc Pauper, Kornelia Neveling, Susan Vermeulen, Michiel Oorsprong, Dominique Smeets, Daniel Olde Weghuis, Ronald van Beek, Marian Stevens-Kroef, Tuomo Mantere, Alexander Hoischen, Guillaume van der Zande, Ellen Kater-Baats
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Chromothripsis, medicine.diagnostic_test, Concordance, Cytogenetics, Genomics, Karyotype, Computational biology, Biology, medicine.disease, Genome, 3. Good health, 03 medical and health sciences, Leukemia, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, 030304 developmental biology, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1015e3b37a4d628457a265b1cef8dcdd
-
8
المؤلفون: Laila El Khattabi, Marc Pauper, Ronald van Beek, Tony Yammine, Tuomo Mantere, Michiel Oorsprong, Caroline Schluth-Bolard, Alexander Hoischen, Kornelia Neveling, Guillaume van der Zande, Susan Vermeulen, Marian Stevens-Kroef, Dominique Smeets, Jean-Michel Dupont, Daniel Olde-Weghuis, Ellen Kater-Baats, Wed Majdali, Céline Richard, Damien Sanlaville, Marion Benoist, Aziza Lebbar, Imane Baatout
المصدر: Molecular Genetics and Metabolism. 132:S263
مصطلحات موضوعية: Endocrinology, Gene mapping, Proof of concept, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Molecular Biology, Biochemistry
-
9
المؤلفون: Jos I. M. Egger, Nicole de Leeuw, Tjitske Kleefstra, Willem M.A. Verhoeven, Ronald van Beek, Joop P. W. van den Bergh
المساهمون: Psychiatry, Interne Geneeskunde, RS: NUTRIM - R3 - Chronic inflammatory disease and wasting
المصدر: American Journal of Medical Genetics. Part A, 167a, 169-73
American Journal of Medical Genetics Part A, 167(1), 169-173. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167, 1, pp. 169-173
American Journal of Medical Genetics. Part A, 167a, 1, pp. 169-73
American Journal of Medical Genetics. Part A, 167, 169-173
American Journal of Medical Genetics Part A, 167(1), 169-173. Wileyمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, DISORDERS, 12q24.31 deletion, social cognition, Neuropsychological Tests, Neuropsychiatry, Experimental Psychopathology and Treatment, Young Adult, SDG 3 - Good Health and Well-being, Pregnancy, Social cognition, Diabetes mellitus, Genetics, medicine, Humans, neuropsychiatry, Child, Genetics (clinical), Motor skill, Chromosomes, Human, Pair 12, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neuro- en revalidatiepsychologie, diabetes, MODY3, business.industry, MUTATIONS, Neuropsychology and rehabilitation psychology, Infant, Newborn, Neuropsychology, Infant, Plasticity and Memory [DI-BCB_DCC_Theme 3], medicine.disease, Obesity, GENE, HNF1A, TRANSCRIPTION FACTORS, Diabetes Mellitus, Type 2, Child, Preschool, ONSET, YOUNG, Female, Blood sugar regulation, Chromosome Deletion, business
-
10
المؤلفون: Ronald van Beek, Mieke F. Roelofs, Kim C. M. Santegoets, Mark H. Wenink, Irma Joosten, Johan Rönnelid, Hans J. P. M. Koenen, Richard Huijbens, Gosse J. Adema, Timothy R D J Radstake, Wim B. van den Berg, Scott Koenig, Linda Mathsson, Friederike Meyer-Wentrup, Piet L. C. M. van Riel, Ezio Bonvini
المصدر: Journal of immunology (Baltimore, Md. : 1950). 183(7)
مصطلحات موضوعية: Regulatory T cell, T cell, Immunology, Arthritis, Down-Regulation, Inflammation, Antigen-Antibody Complex, Lymphocyte Activation, Proinflammatory cytokine, Arthritis, Rheumatoid, Cohort Studies, Immune system, medicine, Immunology and Allergy, Humans, Prospective Studies, PI3K/AKT/mTOR pathway, Cells, Cultured, Aged, business.industry, Receptors, IgG, Dendritic Cells, medicine.disease, Growth Inhibitors, Up-Regulation, Toll-Like Receptor 4, medicine.anatomical_structure, TLR4, Cytokines, medicine.symptom, Inflammation Mediators, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e123dac63b1aff4208d343c08304f7de
https://pubmed.ncbi.nlm.nih.gov/19734236
Full Text Finder 
Find this article in full text from Springer Verlag.