274 results
The main objective of this study is to characterize the flow of information in the fronto-parietal network during the simulation of movements using intracranial EEG recordings. In the characterization we will pinpoint the neuronal (sub)regions of…
The aim of this study is to identify genetic defects underlying CHD and aortic aneurysms. This will provide insight in the aetiology and heredity of these diseases.
To detect high-risk pathogenic mutations in germline DNA of children with childhood cancer that are suggestive of genetic predisposition, using NGS-based whole-exome sequencing, resulting in novel targets for future functional and translational…
Objectives: The aim of this study is to:I Identify pathogenic mutations in novel genes, causing PCDII Develop a diagnostic PCD test, based on MPSIII Validate MPS technique for PCD.
In the present study the prevalence of and risk factors for vitamin D deficiency will be determined in a patient population with a fracture in the upper or lower extremity.
We would like to report a case of an extra-oral manifestation of a White Sponge Nevus (WSN). The purpose of this study was to document a family spanning 6 generations with WSN. It is important to recognize to allow for appropriate genetic counseling…
Primary Objective: *To study differences in pulmonary function (i.e. increased airway resistance) one year after hospitalisation for RSV LRTD between mechanically ventilated and non-ventilated infantsSecondary Objectives: *To study…
The aim of this study is to compare the time course of cytokines (markers for inflammation) in the following 3 groups: RSV-positive, ventilated patients; RSV-positive, non-ventilated patients and RSV-negative, ventilated patients. The main…
The first objective of our study to explore the relation between pro- and anti- inflammatory markers (hsCRP, TNF-α, IL-1ß, IL-6, IL-8, leptin, adiponectin) and BMI z-score in obese children participating in our intervention programs (AanTafel!, de…
Registry is the core study of the European Huntington*s disease Network (EHDN). The aim of the Registry study is to collect prospective data on the phenotypical characteristics of Huntington's disease (HD) mutation carriers regardless of…
To test the hypothesis that IVIG treatment diminish the risk of development of chronic disease, we designed a prospective clinical intervention study in children with newly diagnosed ITP.
1. To describe the development of the nature of the immune system in early life in a profile of cytokines, chemokines and adipokines. 2. To evaluate less invasive methods like the use of saliva or less demanding methods like the use of dried bloods…
To evaluate neurologic- and cognitive disorders, neuroimaging and ophthalmological alterations in perinatally HIV-infected children in comparison to matched (with respect to age, sex, race, home environment and socio-economic status) healthy…
THE KIMONO-STUDY is designed to study the consequences of having an SFK from childhood. Furthermore, a tailor made risk profil will be designed for children with an SFK, based on individual risk factor (for example co-morbidity, genetic aberrations…
The current proposal studies the effect of obesity and asthma on daily physical activity level in children.
Main objective of this study is to investigate the prevalence of EIB in young children with a history of hospitalisation for VLRTI, using an exercise provocation challenge adjusted to the specific age-related course of EIB.
This project aims at investigating the differences between number and fenotype of T cells involved in GvHD when comparing:a) gendermatches: gender-mismatched (female donor, male patient) versus gender-matched (other combinations);b) stem-cell source…
The objective of this study is to determine the frequency of previously undiagnosed SCN5A mutations leading to sudden death in temporal association with vaccination in The Netherlands.
Primary objectives:1a. To determine the severity and course of obstructive sleep apnea in children with congenital mandibular hypoplasia (both isolated and syndromal).1b. To determine the growth pattern of the lower face in relation to the upper…
To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.