47 results
PrimaryEffective treatment regimes and preventive tools of SIB in CdLS by studying phenomenology, etiology and pathogenesis.Secondary a. Development of a flow chart for daily care (diagnostics; management) b. Evaluation whether the present study can…
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 objective of the study is to identify genetic causes of developmentalanomalies of the face and skull (craniofacial anomalies), such as orofacial clefting, craniosynostosis, abnormal dental development and rare craniofacial syndromes.
Primary Objective: The painscores regarding abdominal pain among women with primary outflow obstruction in comparison with an age matched control group.Secondary Objective(s): The prevalence of sexual problems due to the congenital anomalies or the…
1. Identification of gene(s) causing RS. 2. Understanding of the molecular and cellular mechanisms leading to the various manifestations of RS.3. Enabling molecular diagnostics for RS.
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…
The purpose of this study is to contribute to the knowledge of feeding problems in infants with CL, CP and CLP. Our evidence based results can help clinicians, involved in the care of cleft patients, in providing proper information and professional…
To unravel the genetic makeup of colorectal cancer (CRC) in adolescents and young adults (AYAs) in order to improve genetic counseling, surveillance and, ultimately, treatment and disease outcome.
1. Clinical characterisation of manifestations of aging in the affected individual.2. Understanding of the molecular and cellular mechanisms leading to the manifestations in this affected individual.
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
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…
zie bovenstaand
To determine the replication history of DS-B-lymphocytes by KRECs in relation to somatic hypermutation.
Our first aim is to find the cause of Parry-Romberg syndrome. The subsequent aim is to study the pathogenesis of the entity. The final aim is to find an effective management for the disorder.
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…
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…
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…
1,detection of the gene causing Pierpont syndrome2. study of the molecular and cellular mechanisms leading to the various manifestations of Pierpont syndrome3. better understanding of the regulation of subcutaneous fat depositions