Jana Sovová
Charles University(CZ)
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Ion Transport and Channel Regulation, Lysosomal Storage Disorders Research, Education, Psychology, and Social Research, Biomedical Research and Pathophysiology
Most-Cited Works
- → Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing(2013)306 cited
- → Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure(2009)163 cited
- → Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia(2016)155 cited
- → Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation(2014)139 cited
- → Mutations in ANTXR1 Cause GAPO Syndrome(2013)92 cited
- → Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6(2016)78 cited
- → Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency(2011)69 cited
- → Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease(2018)53 cited
- → Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone(2010)52 cited
- → Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene(2013)46 cited