Department of Clinical Medicine

• Published

  The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants

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

• Published

  Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

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

• Published

  Pathogenesis of autosomal dominant familial neurohypophyseal diabetes insipidus: From protein misfolding to degeneration of magnocellular neurons

  Research output: Book/anthology/dissertation/report › Ph.D. thesis

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