126 results
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
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.
Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
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
Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…
To develop and examine the test-retest reliability of a wheelchair skills test for children
The aim of the study is to evaluate whether these three genetic characteristics are able to predict the susceptibility to joint damage in haemophilia patients. Therefore we want to determine the association between the progression of radiographic…
1) To investigate the underlying mechanisms of the variable ADH phenotypes in two extreme ADH populations. - Genetically homozygous patients with a phenotype resembling the phenotype encountered in heterozygous ADH patients. - Genetically…
The aim of the study is to understand the nutritional status of people with complex multiple disabilitiest through measurement of body composition and nutritients.The primary objective of the study is:What percentage of people with complex multiple…
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.
Identification of the causative gene for CSBS.
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…