Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 9 of 9 for “"deep phenotyping"”.
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The Role of Cardiac Imaging in Deep Phenotyping Patients with Cardiomyopathy
… advanced CMR imaging techniques to refine phenotyping of obesity-related cardiomyopathy, TTNtv, and their combination. A prospective study was conducted phenotyping 25 subjects with obesity before and after bariatric surgery, and comparisons made with 24 normal-weight controls. Notably, …
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Development of computational approaches for whole-genome sequence variation and deep phenotyping
The rare disease pulmonary arterial hypertension (PAH) results in high blood pressure in the lung caused by narrowing of lung arteries. Genes causative in PAH were discovered through family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic …
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Profiling, prototyping, and perturbing human immune responses
… disease-relevant biological phenomena through deep phenotyping of humans and using insight from patients to rationally design experimental models and perturbations. By devising systems that faithfully recapitulate human disease biology, this paradigm would enable the discovery of new …
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Phenotype – genotype associations in a large cohort of patients with pulmonary arterial hypertension
… pathogenesis through whole genome sequencing and deep phenotyping. One thousand and seventy patients were sequenced and 391 clinical variables were captured for each patient. In patients with idiopathic PAH the age at diagnosis, gender, right atrial pressure and the transfer coefficient for carbon …
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Unravelling the genetic relationships between auditory processing and speech and language
… for genetic discovery in a large sample when deep phenotyping of APD is unavailable.
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Study of the Phenotypic Characteristics and Genetic Risk Factors of Primary Sclerosing Cholangitis
… resource of patients with PSC and further deep phenotyping and quality of life studies are planned, in addition to undertaking clinical trials for novel therapeutic agents. The study of phenotypic characteristics and genetic association, undertaken in patients with PSC are described in this …
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Exploring the spectrum: The heterogeneity of autism and associations with gastrointestinal inflammation
… highlights the need for a systems approach and deep phenotyping in autism research.
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Large-scale transgenesis and nerve regeneration in C. elegans
… We demonstrate the utility of the system by deep-phenotyping a subset of 6 mutants backgrounds selected from the million mutant project. We introduced 12 fluorescent reporters to label 38 neurons in each genetic background in order to search for defects in development.
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Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.
… PAH by studying a large international cohort of deeply phenotyped patients with idiopathic and heritable PAH who had been whole-genome sequenced. The approach I have used in this thesis differs from previously published studies. Rather than relying solely on case labels in keeping with the …