Uwe Kornak
Institute for Medical Genetics
Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics
Berlin
Germany
Name/email consistency: high
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nürnberg, P., Foulquier, F., Lefeber, D., Urban, Z., Gruenewald, S., Annaert, W., Brunner, H.G., van Bokhoven, H., Wevers, R., Morava, E., Matthijs, G., Van Maldergem, L., Mundlos, S. Nat. Genet. (2008)
- Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. Kornak, U., Ostertag, A., Branger, S., Benichou, O., de Vernejoul, M.C. J. Clin. Endocrinol. Metab. (2006)