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 20 of 1121 for “"Inherited"”.
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Emerin and inherited disease
(cont.) nucleus and at the nuclear surface.
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Inherited memories : performing the archive
This thesis explores the way in which words, memories, and images of District Six are mediated and performed in an attempt to memorialised a destroyed urban landscape. It expands the borders of 'performance' to include oral (re)constructions of place by ex-residents, which in turn opens a space for …
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Inherited risk for common disease
… I set out to investigate whether simple forms of inherited risk, monoallelic or multiallelic, could be excluded by analysis of familial risk for a common disease, such as colorectal cancer (CRC). First, we derived formulae that describe the risk for monogenic, multigenic, and polygenic …
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Mouse Models of Inherited Skin Diseases
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal-dominant keratin disorder. It is clinically characterised by diffuse hyperkeratosis of the palms and soles, demarcated by an erythematous border. Mutations altering the coding sequence of the keratin 9 (KRT9) gene, a …
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Molecular diagnosis in inherited polycystic kidney disease
… but not always phenotypically distinct inherited cystic kidney disorders. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, with an estimated prevalence of 1:1000. Though common, there are numerous challenges in clinical and molecular diagnosis of ADPKD due to …
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Hyperhomocysteinemia: inherited causes and effects of treatment
Contains fulltext : mmubn000001_235021652.pdf (Publisher’s version ) (Open Access)
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Perceived risk of inherited susceptibility to cancer
Perceived risk of inherited susceptibility to cancer (ISC) historically has been determined by objective measures, which neither emphasize how people with ISC perceive their risk of cancer, nor address the meaning of being at risk. The few studies of perceived risk of ISC provide sparse data …
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Performing the (un)inherited language, identity, performance
I will examine how language usage in Post-Apartheid South Africa is central to identity construction and discern in what ways this construction informs my approach to creating performance. I use this paper to offer a frame as to how a relationship to language is socially and historically …
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Inherited Retinal Diseases: Towards Clinical Studies and Treatment
Contains fulltext : 250086.pdf (Publisher’s version ) (Open Access)
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Genetic basis of inherited kidney and related tumours
… It has been estimated that 3-5% of RCC is inherited. The aim of this thesis was to improve the understanding of the genetic basis of predisposition to RCC by identifying the genetic architecture of inherited RCC, potential novel genetic causes and mechanisms of tumourigenesis. Additionally, …
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Genetic and functional studies in inherited platelet disorders
… <1%) are associated with extreme phenotypes and inherited platelet disorders (IPDs). The polygenic score (PGS) for platelet count is constructed from 739 common variants, explaining almost 20% of phenotypic variance. The accurate determination of effect sizes of rare variants causal of IPDs is …
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Inherited retinal diseases: missing heritability beyond the coding regions
Contains fulltext : 239944.pdf (Publisher’s version ) (Open Access)
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Microcomputer-assisted diagnosis of inherited disorders of the skeleton
Several hundred inherited disorders of the skeleton have been delineated. Individually these conditions are rare, but as a group they cause much crippling and hardship. Several factors, including the rarity and complexity of the manifestations of these conditions, as well as semantic overlap, …
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Socially inherited memory, gender and the public sphere in Poland
… 1980 and 1994 lies in the role of 'socially inherited memory'. Socially inherited memory is the dialectical and gendered process by which a given society both remembers and forgets past events, feelings, thoughts and knowledge through representations. The key to Poland's social memory …
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Identifying New Genes for Inherited Breast Cancer by Exome Sequencing
… More than 20 genes have been identified with inherited mutations that lead to significantly increased risk of breast cancer. However, most familial breast cancer is not explained by mutations in these genes. The goal of this project was to identify additional breast cancer genes by exome …
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The inherited epidemic: a history of tuberculosis in occupied Japan
Scholarship on Japan’s Occupation Period (1945-1952) has focused on the ways in which Japan was transformed from an imperial power to a democratic nation. While such work provides valuable information about how the Supreme Commanders for the Allied Powers (SCAP) affected Japan’s political climate …
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Dental implications of inherited connective tissue disorders in South Africa
… type III (OI III) as a category of the inherited connective tissue disorders in South Africa is of paramount importance. Although worldwide, autosomal recessive(AR) OI is rare, it had emerged that the frequency of OI III is relatively high in the indigenous Black African population of …
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Omics Approaches to Uncover Germline and Somatic Variation Underlying Inherited Sarcomagenesis
… underlying sarcomagenesis, we leveraged two rare inherited cancer predisposition syndromes, Li-Fraumeni Syndrome (LFS), and LFS-like (LFSL), both with a high incidence of sarcomas. LFS is caused by mutations in the tumor suppressor gene <em>TP53 (p53)</em><em>, </em>but has variable and incomplete …
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Role of inherited DNA repair deficiencies in cancer susceptibility and evolution
… cancer syndromes. I explored the role of inherited DNA repair deficiencies in cancer predisposition, progression and evolution. Using whole genome sequencing from family trios and a carefully curated variant calling pipeline, my results support the hypothesis that inherited DNA repair …
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