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 2 of 2 for “"dystrophinopathies"”.
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CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
… A group of these disorders falls within the dystrophinopathies. Dystrophinopathies are X-linked disorders caused by mutations in the DMD gene (Xp21.2), which encodes the dystrophin protein. The dystrophin or DMD gene is one of the largest protein-coding genes in the human genome (79 exons) …
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Underlying Contribution of Executive Functioning to Cognition and Academic Achievement in Individuals with Dystrophinopathy
… functioning among individuals affected by the dystrophinopathies and the association with molecular abnormalities will help to further understand how the absence of dystrophin in the central nervous system (CNS) impacts brain development and function, influencing cognition and everyday …