48 results
* To study the relationship between inflammation on MRI and syndesmophyte formation with very detailedimaging methods: radiography, computed tomography (CT), 3 and 7 Tesla MRI. * To examine the time order of pathologic changes like inflammation,…
To develop and examine the test-retest reliability of a wheelchair skills test for children
The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…
1) To demonstrate an elevated troponin concentration before exercise and a rise of troponin after exercise in both pre-clinical HCM mutation carriers and HCM patients with the hypertrophic phenotype, 2) To evaluate the troponin rise in relation to…
The main objective is to assess the frequency of hidden mosaicism, including Y material, in TS patients and examine the effect on: response to different GH doses and GH injection frequency regimens, aortic diameter and distensibility, congenital…
our primary aim is to validate a targeted analysis of circulating DNA in maternal blood by assessing the diagnostic accuracy for fetal trisomy 21. In addition, test characteristics for fetal trisomy 18 detection will be evaluated.
K2. objective
Main objective is to assess CFTR protein expression in nasal epithelial cells and in different peripheral blood immune cell subsets from CF patients with different CFTR gene mutations. Secondary objective is to correlate these expression levels with…
Our primary aim is to develop en perfection the diagnostic accuracy of the non-invasive tests for chromosomal aberrations in maternal blood.
To compare discrimination ability for touch and temperature between subjects with Down*s syndrome and healthy controls. To compare thermal pain thresholds between subjects with Down*s syndrome and healthy controls
The aim of the study is to generate a validated questionnaire to measure dysphagia in the three different stages of Huntington's disease.
The ultimate goal of this research is the clinical implementation of a non-invasive test for prenatal fetal genotyping, including fetal sex determination, using cff DNA in maternal plasma, to replace the current standard practice of invasive tests,…
The objective of the study is to show that it is in principle possible to diagnose carriership of both partners of a couple by means of exome sequencing (proof of principle)
In this pilot study, our aim is to validate the PAP test by assessing the diagnostic accuracy of PAP for a number of paternally derived fetal characteristics in normal and red cell alloimmunized pregnancies.
1. How functions the dopaminergic neurotransmission in adult patients with VCFS who are functioning on an intellectual level of moderate to severe impairment (IQ < 55) by a) a strong cognitive decline or b) a premorbid level of functioning.2…
1. To evaluate the consequences of the diagnosis of a sexchromosomal abnormality during routine prenatal diagnostic testing, in the course of which the experiences of the parents and professionals involved will be noted.2.To determine if it would be…
To compare the clinical outcome after a first episode of VTE in patients with well-defined thrombophilia who have been identified and treated for a longer duration with anticoagulants with patients with VTE who have not been routinely tested.
To prospectively evaluate the feasibility and effectiveness of surveillance of individuals at high-risk for developing pancreatic cancer, in order to detect non-symptomatic (early) neoplastic lesions at a stage when curative resection is still…
To test the hypothesis whether the Intima Media Thickness differs between FH carriers without apparent dyslipidemia and the group of FH carriers with apparent dyslipidemia and a control group consisting of persons tested by the StOEH who did not…
To assess the prevalence of BHD among patients with spontaneous sporadic and familial pneumothorax.