Julia Vodopiutz
Comprehensive Cancer Center Vienna(AT)BOC (Austria)(AT)Medical University of Vienna(AT)
Publications by Year
Research Areas
Connective tissue disorders research, Proteoglycans and glycosaminoglycans research, Genetic and Kidney Cyst Diseases, Genetics and Neurodevelopmental Disorders, Renal and related cancers
Most-Cited Works
- → ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation(2016)150 cited
- → Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome(2009)141 cited
- → Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea(2015)132 cited
- → Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy(2013)122 cited
- → An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study(2010)120 cited
- → Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome(2013)111 cited
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