Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome

por Minkov, Milen, Zeitlhofer, Petra, Zoubek, Andreas, Kager, Leo, Panzer, Simon, Haas, Oskar A.
Publicado 2021

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor

por Poyer, Fiona, Jimenez Heredia, Raúl, Novak, Wolfgang, Zeitlhofer, Petra, Nebral, Karin, Dworzak, Michael N., Haas, Oskar A., Boztug, Kaan, Kager, Leo
Publicado 2022

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations

por Kager, Leo, Jimenez Heredia, Raúl, Hirschmugl, Tatjana, Dmytrus, Jasmin, Krolo, Ana, Müller, Heiko, Bock, Christoph, Zeitlhofer, Petra, Dworzak, Michael, Mann, Georg, Holter, Wolfgang, Haas, Oskar, Boztug, Kaan
Publicado 2018

Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia

por Abbasi, M. Reza, Nebral, Karin, Haslinger, Sabrina, Inthal, Andrea, Zeitlhofer, Petra, König, Margit, Schinnerl, Dagmar, Köhrer, Stefan, Strehl, Sabine, Panzer-Grümayer, Renate, Mann, Georg, Attarbaschi, Andishe, Haas, Oskar A.
Publicado 2021