Drögemöller Lab
Drögemöller Lab
Home
About
Team
News
Publications
Contact
Judith Meijer
Latest
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
Glutaminase deficiency caused by short tandem repeat expansion in GLS
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
Cite
×