48 results
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…
Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…
To identify novel diagnostic and prognostic (bio)markers of Dementia with Lewy Bodies.
To assess the prevalence of BHD among patients with spontaneous sporadic and familial pneumothorax.
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)
The objective of this study is to collect blood samples of women who participated in the ALIFE trial, to test for several DNA-variations as well as anti β2 glycoprotein antibodies, but also to perform overall coagulation assays, such as clot lysis…
Identification of the underlying genes of MMIHS
To develop and examine the test-retest reliability of a wheelchair skills test for children
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.
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
To assess the prevalence of BHD among patients with spontaneous sporadic and familial pneumothorax.
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…
* 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,…
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,…
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.
K2. objective