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  1. Rigshospitalet
  2. Researchers
  3. Mads Bak
Rigshospitalet - a part of Copenhagen University Hospital

Mads Bak

Latest publications View all (5) »

  1. Published

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

    Research output: Contribution to journal › Journal article › Research › peer-review

Frequent journals View all »

  1. American Journal of Human Genetics

    ISSNs: 0002-9297

    Additional searchable ISSN (Electronic): 1537-6605

    Cell Press, United States

    Journal

  2. European Journal of Human Genetics

    ISSNs: 1018-4813

    Additional searchable ISSN (Electronic): 1476-5438

    Nature Publishing Group, United Kingdom

    Journal

  3. Human Mutation

    ISSNs: 1059-7794

    Additional searchable ISSN (Electronic): 1098-1004

    John/Wiley & Sons, Inc. John/Wiley & Sons Ltd, United States

    Journal

  4. Molecular Vision

    ISSNs: 1090-0535

    Molecular Vision, United States

    Journal

  5. JIMD Reports

    ISSNs: 2192-8304

    Additional searchable ISSN (Electronic): 2192-8312

    Springer Berlin

    Journal

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