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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

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

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

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  3. Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome

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  4. A complex phenotype in a family with a pathogenic SOX3 missense variant

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

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  2. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

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  3. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

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  4. Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

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  5. First reported adult patient with TARP syndrome: A case report

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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