يعرض 1 - 20 نتائج من 143 نتيجة بحث عن '"Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences"', وقت الاستعلام: 0.64s تنقيح النتائج
  1. 1
    Interpreting genomic variation using protein structures and evolutionary information.

    المؤلفون: Wiel, L.J.M. van de

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: https://repository.ubn.ru.nl//bitstream/handle/2066/235388/235388.pdf
    https://repository.ubn.ru.nl/handle/2066/235388

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  2. 2
    Transcriptional and physiological adaptation in response to environmental changes: G9a regulating stress tolerance depends on metabolic homeostasis.

    المؤلفون: Riahi Asl, H.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: https://repository.ubn.ru.nl//bitstream/handle/2066/235368/235368.pdf
    https://repository.ubn.ru.nl/handle/2066/235368

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  3. 3
    Characterization of de novo Mutations in the Human Germline.

    المؤلفون: Goldmann, J.M.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/204522
    https://repository.ubn.ru.nl//bitstream/handle/2066/204522/204522.pdf

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  4. 4
    Drosophila models of neurodevelopmental disorders.

    المؤلفون: Castells, A.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/210161
    https://repository.ubn.ru.nl//bitstream/handle/2066/210161/210161.pdf

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  5. 5
    Neuronal Reprogramming: Changing the chromatin landscape.

    المؤلفون: Raadt, J. van der

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/210168
    https://repository.ubn.ru.nl//bitstream/handle/2066/210168/210168.pdf

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  6. 6
    Computational methods for disease gene identification in intellectual disability.

    المؤلفون: Lelieveld, S.H.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/207613
    https://repository.ubn.ru.nl//bitstream/handle/2066/207613/207613.pdf

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  7. 7
    Converging molecular networks affected in Kleefstra syndrome and related neurodevelopmental disorders.

    المؤلفون: Koemans, T.S.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/187350
    https://repository.ubn.ru.nl//bitstream/handle/2066/187350/187350.pdf

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  8. 8
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

    المؤلفون: Stessman, H.A.

    الموضوعات: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/174667
    https://doi.org/10.1038/ng.3792

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  9. 9
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

    المؤلفون: Gabriele, M.

    الموضوعات: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/174704
    https://doi.org/10.1016/j.ajhg.2017.05.006
    https://repository.ubn.ru.nl//bitstream/handle/2066/174704/174704.pdf

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  10. 10
    Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.

    المؤلفون: Castells Nobau, A.

    الموضوعات: Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/174693
    https://doi.org/10.3791/55395
    https://repository.ubn.ru.nl//bitstream/handle/2066/174693/174693.pdf

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  11. 11
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    المؤلفون: Acuna Hidalgo, R.

    الموضوعات: Neuroinformatics., Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/174787
    https://repository.ubn.ru.nl//bitstream/handle/2066/174787/174787.pdf
    https://doi.org/10.1371/journal.pgen.1006683

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  12. 12
    The role of synapse biology in intellectual disability. Many roads to cognitive dysfunction.

    المؤلفون: Nijhof, B.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/166980

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  13. 13
    BRCA Testing by Single-Molecule Molecular Inversion Probes.

    المؤلفون: Neveling, K.

    الموضوعات: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/169902
    https://doi.org/10.1373/clinchem.2016.263897

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  14. 14
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

    المؤلفون: Lelieveld, S.H.

    الموضوعات: Bioinformatics., Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: http://hdl.handle.net/2066/176925
    https://doi.org/10.1016/j.ajhg.2017.08.004
    https://repository.ubn.ru.nl//bitstream/handle/2066/176925/176925.pdf

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  15. 15
    Primary immunodeficiencies - from genetic basis to therapeutic targets.

    المؤلفون: Arts, P.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/175281
    https://repository.ubn.ru.nl//bitstream/handle/2066/175281/175281.pdf

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  16. 16
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

    المؤلفون: Haer-Wigman, L.

    الموضوعات: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: https://doi.org/10.1038/ejhg.2017.9
    http://hdl.handle.net/2066/174726
    https://repository.ubn.ru.nl//bitstream/handle/2066/174726/174726.pdf

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  17. 17
    Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

    المؤلفون: Acuna Hidalgo, R.

    الموضوعات: Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences., Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: https://doi.org/10.1016/j.ajhg.2017.05.013
    http://hdl.handle.net/2066/177281

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  18. 18
    Timing of de novo mutations - relevance to health and disease.

    المؤلفون: Acuna Hidalgo, R.

    الموضوعات: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences.

    مصطلحات الفهرس: Doctoral thesis.

    URL: http://hdl.handle.net/2066/173265
    https://repository.ubn.ru.nl//bitstream/handle/2066/173265/173265.pdf

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  19. 19
    Rapid neuronal differentiation of induced pluripotent stem cells for measuring network activity on micro-electrode arrays.

    المؤلفون: Frega, M.

    الموضوعات: Neurophysiology., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Molecular Developmental Biology.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: https://doi.org/10.3791/54900
    http://hdl.handle.net/2066/168902
    https://repository.ubn.ru.nl//bitstream/handle/2066/168902/168902.pdf

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  20. 20
    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

    المؤلفون: Zazo Seco, C.

    الموضوعات: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences.

    مصطلحات الفهرس: Article / Letter to editor.

    URL: https://doi.org/10.1038/ejhg.2016.182
    http://hdl.handle.net/2066/169850

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