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.
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Showing 1 to 6 of 6 for “"clinical phenotyping"”.
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A molecular-genetic study of Congenital Nystagmus
… movements. It can occur in a broad spectrum of clinical situations and diseases or it may occur in isolation and an inherited disorder. Surprisingly little is known about the underlying mechanisms of ocular-motor control. Similarly, the pathophysiological mechanisms underpinning nystagmus is …
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GENOME-WIDE ASSOCIATION STUDY OF NON-INVASIVE ASSESSMENT OF LIVER FIBROSIS IN MASLD: EVIDENCE FROM AN ITALIAN POPULATION
… disease subjects across the MASLD spectrum. Clinical phenotyping was based on validated non-invasive indices: the Fibrosis-4 index (FIB-4) was used as the primary outcome, whereas the Fibrotic NASH Index (FNI) and serum liver enzymes, namely alanine transaminase (ALT), aspartate transaminase …
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Understanding the Genetic Basis of Obesity: Lessons from Man’s Best Friend
… pursued through familial investigation and deep clinical phenotyping. Further, a canine GWAS association of large effect at the *SEMA3D* locus provides strong orthogonal evidence of its importance in energy homeostasis. Canine GWAS summary statistics were used to construct a canine polygenic risk …
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Genetic approaches to identifying causal pathways to cardiometabolic diseases
… large-scale biobanks and detailed multi-omic and clinical phenotyping, it is now possible to simultaneously measure several thousands of biological traits and test their associations with health outcomes. The unprecedented scale of the available epidemiological data has led to a surge in the …
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The Neural Underpinnings of Obsessive-Compulsive Disorder: From Adolescence to Adulthood
… and habitual control. Comprehensive clinical phenotyping included the Y-BOCS, OCI, and dimensional measures of perfectionism, uncertainty intolerance, and habitual tendencies. Advanced analytical approaches encompassed tissue-corrected metabolite quantification, standardised …
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Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.
… ventricular failure and death. The accurate clinical diagnosis of pulmonary hypertension became possible in the 1950s due to the invention of right heart catheterisation, but it was not until 2000 when the landmark discovery of the causative role of bone morphogenetic protein receptor type 2 …