Found 285 clinical trials
Better Delineation of YY1 Related Phenotype and Epigenetic Signatures.
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI …
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- 19 Feb, 2024
- 1 location
Comprehensive Digital Archive of Cancer Imaging-Radiation Oncology( CHAVI-RO )
The imaging modalities to be covered are X-RAY mammograms, SPECT, CT, CBCT, MR, PET-CT, Ultrasound, digital histopathology, etc. In this phase, our study will include data sets of five types of cancers namely, breast, head and neck, brain, cervix and lung cancer.
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- 19 Feb, 2024
- 1 location
Layer-specific Contribution to Consolidation of Skill Learning in the Primary Motor Cortex
Background Training in a new motor skill often involves periods of active practice and periods of rest. During early motor skill learning, improvements in performance usually happen during the short rest periods between practice sessions. Researchers want to use improved imaging techniques to study the contributions of specific parts of …
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- 19 Feb, 2024
- 1 location
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role …
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- 19 Feb, 2024
- 3 locations
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data. This study seeks to find the prognostic and clinical significance based on molecular and genetic biomarkers/subgroups of gliomas.
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- 19 Feb, 2024
- 1 location
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.
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- 19 Feb, 2024
- 1 location
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function …
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- 19 Feb, 2024
- 1 location
The European NAFLD Registry
The European NAFLD Registry is a prospectively recruited, observational study supporting the study of the clinical phenotype, natural history, disease outcomes and pathophysiology of Non-Alcoholic Fatty Liver Disease and Non-Alcoholic Steatohepatitis. The ultimate goals are to better understand the drivers of interpatient variation in disease pathophysiology and severity and to …
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- 19 Feb, 2024
- 37 locations
Development of an Algorithm to Differentiate Heart Murmurs Using Electronic Stethoscopes
The Eko CORE and DUO stethoscopes are FDA-approved electronic devices that have the capacity to record heart sounds. The study seeks to expand murmur detection to include VHD classification through the development of novel ML algorithms that are able to distinguish between systolic vs. diastolic vs. continuous murmurs, as well …
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- 19 Feb, 2024
- 1 location
Prospective Cohort Study of Disease and Outcomes in Cirrhosis
A population based incidence cohort will enroll patients newly diagnosed with cirrhosis to investigate disease characteristics and outcomes, explore mechanisms predicting early death and hospital admission, and assess new monitoring tools in treatment and prevention of cirrhosis.
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- 19 Feb, 2024
- 1 location