A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

por Geiculescu, Irina, Dranove, Jason, Cosper, Graham, Edmondson, Andrew C., Morava‐Kozicz, Eva, Carter, Lauren B.
Publicado 2022

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

por Wilke, Matheus V. M. B., Morava-Kozicz, Eva, Koster, Matthew J., Schmitz, Christopher T., Foster, Shannon Kaye, Patnaik, Mrinal, Warrington, Kenneth J., Klee, Eric W., Pinto e Vairo, Filippo
Publicado 2022

Identification of Novel Translational Urinary Biomarkers for Acetaminophen-Induced Acute Liver Injury Using Proteomic Profiling in Mice

por van Swelm, Rachel P. L., Laarakkers, Coby M. M., van der Kuur, Ellen C., Morava-Kozicz, Eva, Wevers, Ron A., Augustijn, Kevin D., Touw, Daan J., Sandel, Maro H., Masereeuw, Rosalinde, Russel, Frans G. M.
Publicado 2012