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 “"MOLECULAR VARIANTS"”.
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An investigation of proteoforms in health and disease using peptide-level readouts
… seek a deeper understanding of proteoforms - the molecular variants of canonical proteins. Although humans have around 20,000 protein-coding genes, millions of proteoforms arise through mutations, splicing, and post-translational modifications. My thesis work focuses on two proteoform types: …
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Morphological classification of childhood medulloblastomas with β-catenin immunohistochemistry and mycn fluorescent in situ hybridization
… unsatisfactory as an outcome predictor. Distinct molecular genetic profiles have been described, with four molecular variants of medulloblastoma with specific demographic and prognostic features. These are the WNT subgroup, SHH subgroup, Group 3 and Group 4 tumours. The aim of this study was to …
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ΜΕΛΕΤΗ ΠΑΡΑΛΛΑΓΩΝ ΚΑΙ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ ΑΙΜΟΡΡΟΦΙΛΙΑΣ Β ΣΤΗΝ ΕΛΛΑΔΑ
… POLYMORPHIN FOR EVALUATION OF THE DEFECT AT THE MOLECULAR LEVEL. PRENATAL DIAGNOSIS WAS PERFORMED IN 4 CASES WITH DETERMINATION OF FIX IN EMBRYONIC BLOOD. MOREOVER 37 HAEMOPHILIA 3 PATIENTS ARE CLASSIFIED ACCORDING TO SEVERITY, DEVELOPMENT OF INHIBITORS AND ANTIGENIC DETERMINANTS.