Betiana M. Ziegler

Doctoral Fellow
Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina

I graduated from the School of Exact, Chemical and Natural Sciences, National University of Misiones, on 2019. I am a PhD student, in the 3th years of my fellowship, in the Molecular Genetic of Hemophilia Laboratory, IMEX-CONICET; under the direction of Dra Radic Pamela and co-direction of Dr De Brasi Carlos, line of work relates to: Mechanisms of X-linked disorders’ expression in females (modeled with Hemophilia carriers). X-Inactivation Skewing: causes, biphasic response and phenotype vs tissue specificity

Presentation(s):

• PB0196 - In silico structural analysis of FVIII molecular changes from missense pathogenic variants in non-severe hemophilia A patients displaying FVIII:C discrepancy between one-stage vs chromogenic assays

  Sunday, July 10, 2022
  6:30 PM – 7:30 PM

• PB0200 - Molecular algorithm for genetic diagnosis of women with hemophilia A in Argentina

  Sunday, July 10, 2022
  6:30 PM – 7:30 PM

• PB1171 - Comprehensive Genotype and phenotype characterization in Non-severe Hemophilia A patients on assay discrepancies

  Tuesday, July 12, 2022
  6:30 PM – 7:30 PM