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 4 of 4 for “"Monogenic disorder"”.
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Modeling Action Potential Propagation During Hypertrophic Cardiomyopathy Through a Three-Dimensional Computational Model
… cardiomyopathy (HCM) is the most common monogenic disorder and the leading cause of sudden arrhythmic death in children and young adults. It is typically asymptomatic and first manifests itself during cardiac arrest, making it a challenge to diagnose in advance. Computational models can …
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Cystic fibrosis gene repair: correction of ΔF508 using ZFN and CRISPR/Cas9 guide RNA gene editing tools
Cystic Fibrosis (CF) is an autosomal recessive monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with the ΔF508 mutation accounting for approximately 70% of all CF cases worldwide. This thesis investigates whether existing zinc finger …
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Using human genomics to decipher biological mechanisms underlying reproductive ageing and fertility in women
… menopause, i.e. POI, which is often considered a monogenic disorder, with pathogenic mutations reported in ~100 genes. However, such reports are based 5 on small numbers of individuals without independent replication, or/and no functional validation. I systematically evaluate the penetrance of …
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Development of A Gene Therapy for Creatine Transporter Deficiency
… deficiency syndromes are a group of genetic disorders caused by the inability to synthesize or transport creatine, leading to a severe depletion of creatine in the brain. Creatine transporter deficiency is one of the three Cerebral creatine deficiency syndromes caused by loss of function …