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 5 of 5 for “"Inherited retinal diseases"”.
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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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Inherited retinal diseases: missing heritability beyond the coding regions
Contains fulltext : 239944.pdf (Publisher’s version ) (Open Access)
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
Background: Inherited retinal diseases (IRDs) constitute a group of clinically and genetically heterogeneous conditions which cause degeneration of retinal photoreceptor cells and result in visual impairment. Characterisation of the genetic basis of IRD is not only beneficial for the affected …
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Identification and Application of Novel Therapeutic Targets for PRPH2-Associated Disorders
… are some of the most pervasive pathogenic inherited retinal disease mutations with over 200 identified. Lack of an FDA approved treatment, numerous low prevalence mutations, and complex pathogenic mechanisms make it imperative to identify a ubiquitous therapeutic target. We attempted to …
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Doenças hereditárias da retina: aumento de dados, utilizando métodos generativos, para melhorar a deteção
As doenças hereditárias da retina (IRDs) constituem um grupo de patologias raras e geneticamente heterogéneas, responsáveis pela perda progressiva da visão. A identificação do gene causador é essencial para o tratamento, mas requer testes genéticos extensos e dispendiosos. Neste contexto, a …