Research output

  1. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Research output: Contribution to journal › Article › Academic › peer-review

  2. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  3. Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

    Research output: Contribution to journal › Article › Academic › peer-review

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ID: 98245