Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

ID: 56073999