Research interests

My PhD projects focuses on genetic modifiers for Charcot-Marie-Tooth disease.

specialisation

Neurogenetics - Clinical Genetics

Research output

  1. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

    Research output: Contribution to journalArticleAcademicpeer-review

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