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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

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

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

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  3. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations

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

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

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  1. Limited colocalization of microbleeds and microstructural changes after severe traumatic brain injury

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

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  3. First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

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Original languageEnglish
JournalClinical Dysmorphology
Volume26
Issue number3
Pages (from-to)148-153
ISSN0962-8827
DOIs
Publication statusPublished - 1 Jun 2017

    Research areas

  • Journal Article

ID: 50312812