Research output

  1. Clinical implementation of gene panel testing for lysosomal storage diseases

    Research output: Contribution to journalArticleResearchpeer-review

  2. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

    Research output: Contribution to journalArticleResearchpeer-review

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Activities

  1. Euromit 9, European meeting on mitochondrial pathology

    Activity: Participating in or organising an eventParticipation in conference

  2. EUROPEAN HUMAN GENETICS CONFERENCE

    Activity: Participating in or organising an eventParticipation in conference

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