14 results
The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…
This study aims to gain more insight in the sexual development of adolescent boys with ASDs.The main research question is: How do high functioning boys with ASD develop sexually? The main research question is worked out in 2 parts/1. Which sexual…
1. To assess whether microarchitectural alterations in the brain of different types of craniosynostosis patients are indeed primary.2. To assess local cerebral perfusion in craniosynostosis patients and its change after surgery.3. To understand the…
To characterize the dyslipidemias and their consequences in carriers of mutations in glycosylation genes.
To sess the relationship between cerebral perfusion and clinical findings (neurological and neuropsychological) in patients with sickle cell disease.To compare iamging fincdings in children with and without sickle cell disease.
To determine the normal ferritin level in the anterior chamber, and to compare this with the ferritin level in HHCS patients.
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 purpose of the present study is to try to classify autistic children into distinct subgroups, by clinical morphological examination. We mainly want to answer the following questions: 1) Is there an increased prevalence of minor anomalies in…
We aim to proof that introduction of (rapid) NGS-based sequencing (WES/WGS) as a first tier genetic test in the diagnostic process for critically ill newborns admitted at the NICU and patients with severe neurodevelopmental disorders leads to faster…
Our objective is to find predictive biomarkers for disease progression in RVCL-S, a monogenetic small vessel disease, and to dissect disease mechanism to identify new treatment targets to improve health for RVCL-S patients, which may also serve as…
To assess embryonic, foetal and placental growth trajectories by serial assessments of sizes and volumes and foetal morphology during the first, second and third trimester of pregnancy with the aim to examine whether BS influences embryonic growth…
Primary Objective(s):1. To study the presence and extend of exercise intolerance in male, female FD patients with classical FD and men with non-classical FD, in different stages of the disease.2. To determine the aetiology of exercise intolerance in…
The primary objective of this study is to investigate if exogenously supplied ELABELA can induce MZ twinning in cultured human embryos. This will be done using time-lapse monitoring of donated human embryos that will be treated with synthetic…
The overall goal of this project is to define and characterize congenital anosmia-related neural plasticity in the human brain and its behavioral consequences. We hypothesize that individuals suffering from congenital anosmia demonstrate wide-spread…