King's College London

• Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

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

• Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

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

• Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland

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

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