Department of Clinical Medicine

• Published

  A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

• Published

  New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

• Published

  An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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