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Cancer Genetics: Development and validity testing of a screening instrument for psychosocial problems

To develop and evaluate a screening questionnaire as an aid in identifying individuals experiencing significant psychosocial problems associated with cancer genetic counseling. The questionnaire will be multidimensional and will be developed…

Implementation study on population based carrier screening via the general practitioner in the northern part of the Netherlands. Research on the implementation of a clinically validated population based carrier screening test for couples with a child wish.

This study aims to investigate whether the clinically validated population based expanded preconception carrier screening (PCS) test, developed by the Department of Genetics of the UMCG, can be implemented responsibly via the general practitioner as…

Fitness-to-Drive and Risk acceptance in Huntington's disease

We aim to develop three cognitive profiles to assess FTDr in HD patients; 1) Fit to drive, 2) No longer fit to drive, and 3) Dubious fit to drive and no longer fit to drive. The profiles will be determined with classic neuropsychological tests,…

An observational, prospective, multi-centre, natural history study of patients with mucopolysaccharidosis type IIIA

Evaluate the clinical progression in patients with MPS IIIA who are untreated with any investigational product and to obtain standardized assessments: neurocognitive, behavioural, sleep-wake habits and effect of MPS IIIA on the quality of life of…