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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

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

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

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

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

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

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

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  2. Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

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

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

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

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Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume62
Issue number2
Pages (from-to)96-96
ISSN1769-7212
DOIs
Publication statusPublished - 2019

ID: 54942740