86 results
In the present study we aim to identify the genetic modifiers in this family which underlie differences in severity and type of phenotype by means of linkage analysis.
Using pedigree research in two CVID-families to find clues for genetic testing.
The aims of this study are to assess the additional value of NBI in comparison to white-light endoscopy (WLE) for the detection and classification of HPs, SAs, MPs and adenomas in patients with HPS.
To evaluate the effects of short term supplementation of Phe to levels comparable to levels observed in adult patients who fully discontinued their diet on neuropsychological functions and wellbeing of adult patients with PKU.
identification of the needs of families with juvenile Huntington's disease
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
To obtain skin biopsies of healthy volunteers for scientific research.
Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).
The aim of the study is to improve the quality of life of cystinosis patients. Part of it forms neuropsychological screening in order to identify specific defects in the neurocognitive development and learning abilities. The results will contribute…
- Identify key factors of the cardiac transcriptome in patients with cardiac malformations- Identify the transcriptional regulatory interactions underlying the cardiac transcriptome- Bioinformatically map and analyse the cardiac regulatory network…
To determine, by measuring cIMT's, whether the abnormal lipid profile of GD I carriers and patients is associated with atherosclerosis and an increased risk of CAD.
Assembly of a large sample of patients/families with nonsyndromic oro-facial clefts from Central Europe for identification of genetic factors responsible for this phenotype by usage of association and linkage disequilibrium studies.
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.
The objective of the research is to examine the perspective of adults with Cystic Fibrosis concerning sexuality and to examine which factors are of influence, so that we 1.) acquire insight in giving meanings and perception of sexuality in the…
Main objective of this study is to develop an MRI protocol from which regional PWV can be assessed. An automated image analysis tool, indispensable for fast, reproducible and observer-independent data processing will be developed. The technique will…
More knowledge about the clinical aspects of the FMR2 gene mutation can complete the couseling. Carriers with the desire to start a family can take the chance on POF in consideration. The clinical symptoms of FXTAS can be differentiated from other…
Primary objectives1. What is the pulmonary function and exercise tolerance in children born with esophageal atresia at the age of 8-18 years (group I), determined by spirometry, measurement of lung volumes and a maximal exercise test. 2. What is the…
Objectives Primary objective:- To determine if there is a difference in pro-hepcidin and hepcidin values in blood and urine between Gaucher patients and healthy controls, and between Gaucher patients and hemochromatosis patients. - To gain insight…
An explanation of the complete spectrum of anomalies seen in fetuses with increased NT could be a disturbed endothelial differentiation related to the cardiovascular development. Cardiac defects form the severe end of the spectrum. More data, both…