Karen G Scheps

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 3

Top Topics

Bioinformatics Analysis

Intellectual Disability

Muscular Dystrophy

Top Venues

European journal of haematology

This page only lists publications with an associated author ORCID identifier.

Publications

Karen G Scheps, Marcia Anahi Hasenahuer, Gustavo Parisi, Héctor M Targovnik, María S Fornasari
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. Human mutation 41 (1) (2019)
Karen G Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela, María Silvina Fornasari
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain. European journal of haematology 100 (6) (2018)
Karen G Scheps, Viviana Varela, Héctor M Targovnik
The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature. Hemoglobin 42 (5-6) (2018)