Behnaz Pezeshkpoor

Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA

Behnaz Pezeshkpoor, N. Zimmer, N. Marquardt et al. · Journal of Thrombosis and Haemostasis · 2013 · 74 citations

Next Generation, Genetic Disorder, Medicine +11

Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays

Anna Pavlova, Daniel Delev, Behnaz Pezeshkpoor et al. · Thrombosis and Haemostasis · 2014 · 65 citations

Immunohematology, Genetics, Immunology +17

Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance

Behnaz Pezeshkpoor, Elisabetta Castoldi, A. Mahler et al. · Journal of Thrombosis and Haemostasis · 2016 · 29 citations · Full text

Protein Function, Novel F5 Mutation, Genetics +8

Clinical manifestation of hemophilia A in the absence of mutations in the <i>F8</i> gene that encodes FVIII: role of microRNAs

Katarzyna I. Jankowska, Joseph R. McGill, Behnaz Pezeshkpoor et al. · Transfusion · 2019 · 25 citations · Full text

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats

Behnaz Pezeshkpoor, Simone Rost, Johannes Oldenburg et al. · Journal of Thrombosis and Haemostasis · 2012 · 20 citations · Full text

Natural Sciences, Genetics, Pathogenesis +9