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 “"Severe combined immunodeficiency (SCID)"”.
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Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)
A specialised clinic for the diagnosis of primary immunodeficiency diseases was established at the Red Cross War Memorial Children's Hospital (RXH) in 1982. The patient load was significant as clinic records indicated that 122 primary immunodeficiency cases were diagnosed on clinical and laboratory …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to determine whether 5’-hydrolysis …
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Nuclease-Mediated Targeted Gene Insertion at the Adenosine Deaminase Locus in Primary Cells
… therapy clinical trial was for a patient with severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency. Initial trials looked promising and the technique was extended to other forms of primary immunodeficiency. Unfortunately, some of the patients enrolled in these …
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The Role of Multi-Drug Resistance Associated Protein 4 and P-glycoprotein in Resistance of Neuroblastoma to Topotecan and Irinotecan
… subsequently transplanted as xenografts into severe combined immunodeficiency (SCID) mice to determine the effect of MRP4 expression on the <em>in vivo</em> response to topotecan. Unexpectedly, MRP4 silencing did not persist <em>in vivo</em>, and none of the xenograft models responded to …