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

Familial craniosynostosis associated with a microdeletion involving the NFIA gene

Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
Original languageEnglish
JournalClinical Dysmorphology
Volume24
Issue number3
Pages (from-to)109-12
ISSN0962-8827
DOIs
Publication statusPublished - 24 Feb 2015

ID: 45087478