Uwe Kornak

Uwe Kornak

Georg-August-Universität Göttingen - Göttingen / Germany
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1758580
University of Göttingen
person_outline Uwe Kornak's MOST POPULAR ARTICLES
1-) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and manU Kornak, D Kasper, MR Bösl, E Kaiser, M Schweizer, A Schulz, ...Cell 104 (2), 205-215, 200111342001
2-) Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegenerationD Kasper, R Planells‐Cases, JC Fuhrmann, O Scheel, O Zeitz, K Ruether, ...The EMBO journal 24 (5), 1079-1091, 20054252005
3-) Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosisU Kornak, A Schulz, W Friedrich, S Uhlhaas, B Kremens, T Voit, C Hasan, ...Human molecular genetics 9 (13), 2059-2063, 20004242000
4-) Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...Nature genetics 40 (1), 32-34, 20084182008
5-) Mutations in WNT1 cause different forms of bone fragilityK Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...The American Journal of Human Genetics 92 (4), 565-574, 20133092013