Medical Genetics

Research output

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

    Research output: Contribution to journalArticleResearchpeer-review

  2. Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

    Research output: Contribution to journalArticleResearchpeer-review

  3. Expanding the clinical spectrum of biallelic ZNF335 variants

    Research output: Contribution to journalArticleResearchpeer-review

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Activities

  1. Diagnostics in LSD and mitochondrial genes

    Activity: Talk or presentationTalk or presentation at a workshop/seminar

  2. 18th BeSHG meeting: "The Epigenome in develpoment and disease

    Activity: Participating in or organising an eventParticipation in conference

  3. European Society of Human Genetics

    Activity: Participating in or organising an eventParticipation in conference

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