Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

by Karolina I. Smolag, Marcus Fager Ferrari, Eva Zetterberg, Eva Leinoe, Torben Ek, Anna M. Blom, Maria Rossing, Myriam Martin
Published 2021

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance

by Susanne Fransson, Angela Martinez-Monleon, Mathias Johansson, Rose-Marie Sjöberg, Caroline Björklund, Gustaf Ljungman, Torben Ek, Per Kogner, Tommy Martinsson
Published 2020