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Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

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DOI

  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Is MED13L-related intellectual disability a recognizable syndrome?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Phenotypic variability in Muenke syndrome-observations from five Danish families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind62
Udgave nummer2
Sider (fra-til)96-96
ISSN1769-7212
DOI
StatusUdgivet - 2019

ID: 54942740