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 3 of 3 for “"primordial dwarfism"”.
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Vascular Disease Pathogenesis In Smooth Muscle Dysfunction Syndrome and Majewski Osteodysplastic Primordial Dwarfism Type Ii
… Syndrome (SMDS) and Majewski Osteodysplastic Primordial Dwarfism Type II (MOPDII). SMDS is a rare condition due to pathogenic variants in <em>ACTA2 </em>p.Arg179, which lead to dysfunction of smooth muscle cells (SMCs) throughout the body. Complications of SMDS include early-onset thoracic …
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The role of the PWWP domain in the DNA methyltransferase 3A targeting to the genome
… interaction. Similar mutations in humans cause primordial dwarfism. I found that oocytes of Dnmt3a-D329A mice show no alterations in DNA methylation. However, the D329A mutation causes dominant postnatal growth retardation in mice. At the molecular level, it results in aberrant progressive …
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Estudio molecular de pacientes colombianos afectados por enanismo esencial
Los síndromes de enanismo esencial microcefálico son un grupo de enfermedades monogénicas infrecuentes que se caracterizan principalmente por talla baja extrema proporcionada de inicio prenatal y microcefalia severa. En los pacientes que formaron parte del presente estudio se investigaron variantes …