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  3. Human Mutation
Rigshospitalet - a part of Copenhagen University Hospital

Human Mutation, ‎1059-7794

Journal

Latest publications View all (52) »

  1. E-pub ahead of print

    Three novel FHL1 Variants cause a mild Phenotype of Emery-Dreifuss Muscular Dystrophy

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

  2. Published

    Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

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

  3. Published

    The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

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

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Human Mutation

HUM MUTAT, Human mutation, Human mutation., Medline Abbreviated Title: Hum Mutat

Titles
  • Human Mutation
ISSNs
  • 1059-7794
Additional searchable ISSN (Electronic)1098-1004
PublisherJohn/Wiley & Sons, Inc. John/Wiley & Sons Ltd
Country/TerritoryUnited States

Journal

ID: 88982