293 results
Our objective is to measure systemic glycocalyx volume in patients with premature atherosclerotic disease before the age of 40 years and to compare this with a age and sex matched healthy control group.
This current study aims to investigate the use of bèta-TCP, a synthetic tricalcium phosphate, as a filler of the autologous symphyseal bone graft harvest site in patients undergoing grafting of clefts of lip, alveolus and palate.The specific…
To determine the frequency of symptoms and signs of a neuromuscular disorder (myopathy, neuropathy) in patients with haemochromatosis. To evaluate in these patients the impact of these symptoms and signs on the quality of life. To assess in patients…
- To analyze retinoid levels in plasma and amniotic fluid from infants and mothers to establish the potential link between retinoids and CDH. - To establish a registry of blood and tissue samples that will be valuable for future studies of the…
Our project focuses on the function of transporters and deiodinases in the (dys)regulation of intracellular T3 levels in patients with psychomotor retardation and abnormal serum thyroid hormone levels. The main objectives of our study are:1. To…
This study aims to establish the effectiveness of web-based counselee-tailored information plus question prompt designed to 1) increase realistic expectations of breast cancer genetic counselling, 2) facilitate participation, question asking and…
Primary objective:* Evaluate long-term effect of tolvaptan in ADPKD through rate of renal volume change(%) for tolvaptan-treated compared to placebo-treated subjects.Secondary objectives:* Evaluate long-term efficacy of tolvaptan in ADPKD through a…
In patients who have undergone surgical repair of TOF, we aim to- assess the development of RV dimensions and function in relation to clinical outcome, in a time dependent manner,- identify, chracterize and quantify markers in blood samples, using…
To identify high risk groups who are in need for more and specific help and guidance, and to offer appropriate counselling.
Objective: permanent improvement of the symmetry of the external nose in patients with unilateral cleft
The objectives of the study are to evaluate the following in patients with a documented history of EPP:•determine whether CUV1647 can reduce the number of phototoxic reactions in patients with EPP•determine whether CUV1647 can reduce the severity of…
To develop valid and reproducible protocols to measure cardiorespiratory fitness (VO2peak and energy cost of locomotion) in ambulatory children with SB. These protocols will allow further studies regarding physical fitness in these children.
To detect B-cell differentiation and maturation defects in patients with antibody deficiency syndromes of unknown origin (CVID, SAD), which are predictive for clinical complicationsTo detect and sequence candidate genes in subgroups of patients with…
The research strives for a large group of homogeneous AID patients, so that a powerful association study can be performed to detect genetic risk factors. These factors can be shared by several AIZ, or be specific is for a single AID. The aim of this…
The main objective of this study is to investigate the relation between Cx40 polymorphism and protein expression in the general population and patients without a history of AF.
The main objective is to identify a difference in mRNA expression level of IFN and IFN related genes between Down Syndrome children and a control group of healthy children (siblings). The secondary objective is to identify a relationship between…
The objective is to determine the disease severity in genetically proven CMT1A/HNPP patients and to correlate this with sequence variants in CMT and immunity related genes. Identification of genotype-phenotype correlations in CMT1A will allow…
The aim of this study is to invite a new cohort of CADASIL patients for a 7 Tesla MRI scan. By doing this, we aim to get more insight into the pattern and development of cortical atrophy and vessel wall thickening in CADASIL patients of different…
The objective of this research is to develop a method which can identify among all consanguineous couples the ones which are at high risk.
1. To what degree are the type of social difficulties similar or different in children with Klinefelter syndrome, Turner syndrome and autism?2. Which cognitive dysfunctions are most strongly related to social difficulties in these different clinical…