Research output

  1. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

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

  2. “Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome

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

  3. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

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

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ID: 4489348