Uwe Kornak
Praxis für Humangenetik Tübingen(DE)University of Göttingen(DE)
Publications by Year
Research Areas
Connective tissue disorders research, Bone Metabolism and Diseases, Bone health and treatments, Dermatological and Skeletal Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man(2001)989 cited
- → Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2(2007)374 cited
- → Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration(2005)364 cited
- → Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis(2000)350 cited
- → Mutations in WNT1 Cause Different Forms of Bone Fragility(2013)281 cited
- → Congenital disorders of glycosylation (CDG): Quo vadis?(2017)266 cited
- → Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome