Array genotyping as diagnostic approach in medical genetics

por Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes
Publicado 2022

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia

por Hetzer, Benjamin, Meryk, Andreas, Kropshofer, Gabriele, Bargehr, Caroline, Jimenez-Heredia, Raul, Boztug, Kaan, Mühlegger, Beatrix E., Dworzak, Michael, Gruber, Thomas, Crazzolara, Roman
Publicado 2022

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma

por Locher, Maurus, Jukic, Emina, Vogi, Verena, Keller, Markus A., Kröll, Teresa, Schwendinger, Simon, Oberhuber, Klaus, Verdorfer, Irmgard, Mühlegger, Beatrix E., Witsch‐Baumgartner, Martina, Nachbaur, David, Willenbacher, Wolfgang, Gunsilius, Eberhard, Wolf, Dominik, Zschocke, Johannes, Steiner, Normann
Publicado 2022