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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Rett-like childhood syndromes: - identification of disease-causing genes and mechanisms, a clinical and molecular study

Research output: Book/ReportPh.D. thesisResearch

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    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
Number of pages106
Publication statusPublished - 30 Jan 2019

Note re. dissertation

Principal supervisor:<br/>Dr. Med. Zeynep Tümer, Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet<br/>Primary co-supervisor:<br/>Anne-Marie Bisgaard, Center for Rett syndrom, Rigshospitalet<br/>Co-supervisors:<br/>Cathrine Jespersgaard, Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet<br/>Karen Brøndum Nielsen, Kennedy Centret, Klinisk Genetisk Klinik, Rigshospitalet

ID: 59158025