6 results
There might be discrepancies in number and type of Cancer Predisposition Syndrome diagnoses between the genotype first and the phenotype first approach.
REE will be assessed using indirect calorimetry. Oxygen consumption (VO₂) and carbon dioxide production (VCO₂) will be measured. The respiratory quotient (RQ) will be derived from VO₂ and VCO₂. Body composition will be determined by…
We hypothesize that the risk of any congenital abnormality in fetuses with an early increased NT that normalizes, will be lower than those with persistent increased NT after 11 weeks of gestation.
Primary objective: To classify the effect of the pharmacogenetic profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication with an actionable drug-gene interaction in the…
To establish the diagnostisch accuracy of ultrasound for the exclusion of fracture of the elbow