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 6 of 6 for “"phenotypic manifestations"”.
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Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза
… II mutations are associated with more severe phenotypic manifestations on the part of the respiratory system, GIT and others - sweat test, CFRD, respectively, worse prognosis, emphasis was also placed on the diagnosis of cystic fibrosis based on alarming symptoms. Their recognition is of …
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dB2 neuron dysfunction causes congenital hypoventilation
… neurons account for respiratory dysfunctions and phenotypic manifestations observed in congenital hypoventilation. By combining intersectional labeling, murine intersectional chemogenetics, lineage-tracing, and conditional mutagenesis, my doctoral investigation reveals that specific subgroups of …
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Functional Characterization of the C-terminal Cholinesterase-Like (ChEL) Domain of the Thyroid Hormone Precursor Protein
… 2,000-4,000 newborns, with a varying degree of phenotypic manifestations. Tg protein, regulated by TSH, is secreted to the lumen of thyroid follicles, where thyroxine (T<sub>4</sub>) is formed primarily at the N-terminus, and triiodothyronine (T<sub>3</sub>) is formed primarily in the ChEL …
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Estimation of economic weights for a beef cattle selection index
… the plane of nutrition for wintering cows. The phenotypic manifestations of these three traits were also investigated, weaning rate (WRATE), weaning weight of an average 7 mos old steer (W117) and mature size (WMA). The results for these traits are similar to the genetic variables. The worth of …
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The Role Of Inflammation In Pathogenesis And Treatment Of Globoid-Cell Leukodystrophy
… as that of the human counterpart and has similar phenotypic manifestations. Previous studies have shown that there is a synergistic therapeutic effect when bone marrow transplantation is combined with AAV2/5 mediated gene therapy. Our current study found that the synergistic effect could be …
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Novel Approaches to Thalassaemia Gene Therapy
… stages or adulthood that fails to avert phenotypic manifestations of the condition. This study forms the basis of a long-term programme to develop novel approaches to thalassaemia gene therapy, namely via an in utero delivery route that in principle could be readily applicable worldwide …