Research projects

Cohort-based identification and characterization of mutations in rare chromosomal and Mendelian disorders

  • High throughput sequencing in intellectual deficit and congenital anomalies
  • High throughput sequencing in epilepsy
  • High throughput sequencing in hereditary connective tissue disorders
  • Identification of mutations in Osler disease, hereditary angioedema, and craniofacial disorders

Cohort-based characterization of disease mechanisms in rare chromosomal and Mendelian disorders

  • Characterization of molecular mechanisms in ciliopathies

Cohort-based studies on surveillance and intervention in rare disorders

  • Norwegian study of Marfan syndrome, 10 years follow-up (general and radiological arm)
  • International multicenter studies on surveillance and intervention in rare disorders 
    (Huntington disease (Euro Huntington)), cleft lip and palate (TOPS)
 
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