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Rigshospitalet - a part of Copenhagen University Hospital
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Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

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  1. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

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  2. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

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  3. Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

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  4. Familial craniosynostosis associated with a microdeletion involving the NFIA gene

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  5. Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities

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  1. Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

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  2. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

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  3. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

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

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  5. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

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Original languageEnglish
JournalClinical Dysmorphology
Volume28
Issue number1
Pages (from-to)41-45
Number of pages5
ISSN0962-8827
DOIs
Publication statusPublished - Jan 2019

ID: 56073999