25 results
Primary goal:To provide an overview of long term effects (neurocognitive, behavioral and learning problems) in children with MTHI and to identify specific risk groups with a higher prevalence of more serious problems. This knowledge can contribute…
To gain insight into the biological pathways that are influenced by the CEEx30/31 mutations.
This pilot prospective cohort study is designed to provide feasibility data for a large global study that will critically evaluate the impact of sport activity and FAI development during the critical phase of hip maturation.Primary Feasibility…
To visualize and quantify areas of dysfunctional flow in the TCPC and within the single ventricle in patients after a Fontan procedure and try to determine a relationship between these quantitative energetic parameters and adverse outcome.
The primary objective of this study is to investigate the association between smartphone use and risk of myopia in teenagers.
The primary objective of this study is to describe the intracardiac anatomy and hemodynamics of DILV patients without Fontan circulation using 4D MRI. Furthermore, the functional status and quality of life of these patients will be assessed and…
1. To examine whether the PI3K-AKT pathway is overly activated in children with Down syndrome compared to healthy age-matched controls. 2. To determine the rate of exhaustion and the apoptosis of lymphocytes in children with DS. 3. To determine the…
1. To determine the frequency of mutations in known and novel pediatric renal cancer predisposing genes.2. To structurally document phenotypic characteristics of children with renal cancer, to optimize genetic counseling and surveillance and…
Our primary objective is to compare children with FXS with children with non-syndromic ASD, a developmental delay (DD) and typically developing (TD) children on three domains: ASD severity, cognitive abilities and (neuro)biological characteristics.…
To determine the effect of mutations in the TBL1X gene on TH dependent signalling in liver cells generated from iPSCs.
Objective: The present protocol is nested in the TRACE study (CMO 2014-1349, NL50015.091.14 and in the linked TRACE-BIOME study, CMO 2015-1806, NL53630.091.15), and explores whether an ED, compared to healthy diet, affects the fronto-striatal and…
- What is the echogenicity (quantitative described as z-scores, based on own laboratory values and qualitatively described as Heckmatt gradations) of orofacial muscles (digastrics muscle, geniohyoid muscle, masseter muscle, temporal muscle) in…
The primary purpose of this study is to determine how excessive parental criticism and lack of empathy affects the emotional and neural development during adolescence and whether there are bidirectional influences between parent-child interactions…
- The development of blood-based tests, either platelet or EV-based, for the detection of (the type of) tumors in RB1-mutation carriers.- Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors).- Contribute to…
The purpose of the HiN-6 study is:(1) To describe the health status of the Dutch haemophilia population, with special focus on viral infections, inhibitor development and age-related co-morbidities.(2) To gain insight into the health-related quality…
The goal of this study is to assess the long-term impact on child*s cognitive- en neurodevelopment, growth and health in children born from mothers with preterm prelabor rupture of membranes (PPROM) between 34 and 37 weeks* gestation.
Primary Objective:To characterize a cohort of STXBP1-encephalopathy patients in a standardized, integrative manner, including in-depth clinical profile characterization and EEG recordings. Moreover, for a subgroup of patients, iPSC-derived induced…
To investigate the natural history of NAFLD, we will determine the change in ELF test for fibrosis and change in liver fat percentage measured by 1H-MRS.
We want to investigate whether blood levels of vitamin K are lower in children with O.I. compared to children without O.I.
Primary objectives are displayed here.Part 1: Establish the effect of early life cardiovascular risk factors on pre-clinical atherosclerosis in adolescents.Part 2: Identify the impact of diminished early life lung function on lung function during…