58 results
The main objective is to describe the interactions between physical sensory stimulations and high-level prior assumptions that give rise to visual perception. In two secondary objectives, we will advance novel model-based neuroimaging data-analysis…
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
Primary Objective: To further optimize the IPMDSSecondary Objective(s): To determine in which age-groups the items within the IPMDS are appropriate To determine whether the IPMDS can assessed reliably by research nurses, students and physician…
We aim to conduct a five year follow-up amongst the X-ALD carriers and assess their current symptomatic and biochemical status. This data will provide new insights in the progression of the disease in carriers. Moreover we would like to validate a…
Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…
To evaluate the prevalence of femoral head pathology in patients with MPS III.
The main objective of the separate studies of this study is the evaluation of grasping performance when electrotactile or vibrotactile feedback is provided compared to the non-feedback and only visual feedback situation. The main question to be…
The family with the TRα2 premature stop enables us to investigate the biological role of the orphan wild-type TRα2 and the consequences of its dysfunction. The primary objectives of this proposal are (i) to search for a biological function of TRα2…
Screening of patients with the inherited liver disease Crigler-Najjar.
To gain insight (1) into psychological functioning of couples where one partner is carrier of HD and who have PGD child(ren); and (2) into the family interactions in these families.
To determine the appropriateness of scale content of the preliminary CLEFT-Q scales by age and culture and to identify unclear or ambiguous items, instructions and response options
The aim of this research is to improve the understanding of the coagulation system through a detailed characterization and quantification of biosynthesis and expression of several coagulation proteins in BOECs. The data obtained in the study will be…
To evaluate the tissue-oxygenation and microcirculation before, during and after application of artificial pneumoperitoneum/-thorax using Near Infrared Spectroscopy (NIRS) and Sidestream Dark Field Imaging (SDF) and validate the usefulness of these…
To evaluate and obtain insight into psychological, social and moral factors in thoughts and attitudes of pregnant women and their partners carrying a fetus with an isolated CL ± P in order to improve counseling.
The objective of the study is to be able to determine the contribution of blood inorganic phosphate to the signal observed in skeletal muscle.
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
To determine the replication history of DS-B-lymphocytes by KRECs in relation to somatic hypermutation.
The main goal of this study is to evaluate whether the performance in daily life grasping tasks, performed with a myoelectric prosthesis, increases when vibrotactile feedback about hand opening and grasping force is provided. Furthermore, the effect…
Objective: To analyze in more detail the complement activation and regulation and especially the functional CFH activity following three types of interventions in patients known with HUS and correlate these to clinical findings. The three…
Objective 1: To improve clinical practice in the management of disorders of sex development (DSD)Objective 2: To develop accepted evidence-based clinical guidelines for a better clinical care of patients with DSD affected by distinct genetic…