101 results
We aim to fill up the present gap in knowledge about HCO3- and mucus transport in native human intestine, and about possible effects of pharmacological correctors on these parameters in CF, by detailed electrophysiological and biochemical ex vivo…
The primary objective is to obtain OCT data for children aged 4 to 10 diagnosed with non-syndromic craniosynostosis and to compare these to the normal reference values.
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…
In this project we use skeletal muscle biopsy tissue from DM1 patients and controls to isolate pericytes. These muscle-derived mesodermal cells can be genetically corrected by the novel powerful CRISPR-Cas9 technique, which will remove the disease…
In this pilot study we intent to evaluate whether children born from TESE-ICSI treatment are at risk for increased de novo (pathological) mutations. This research is novel and pioneering, and never published before. We expect the outcome to be…
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…
This current study aims to investigate the use of Curios bèta-TCP, a synthetic tricalcium phosphate for repair of the alveolar cleft in patients with clefts of lip, alveolus and palate.The specific properties of Progentix TCP result in optimal and…
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…
The main objectives of this study are feeding techniques and skills and weight gain. Secondary objectives are NS feeding *feeding sequelae*, extent of the cleft, associated malformations, upper respiratory infections / pneumonia, medication (child…
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
The aim of this study is to investigate the long-term outcomes in patients with BWS that have been surgically treated at our institution with the help of simple, non-invasive, objective study tools. We hope to gain valuable information regarding the…
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…
To determine safety and efficacy of oocyte vitrification.