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Ing. Kateřina Hodaňová Ph.D.
Akademický pracovník na 1. lékařská fakulta
48 publikací
Publikace
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
1. lékařská fakulta
publication
Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
2019 |
1. lékařská fakulta
publication
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
2018 |
1. lékařská fakulta
publication
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
2016 |
1. lékařská fakulta
publication
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
2014 |
1. lékařská fakulta
publication
Mutations in ANTXR1 Cause GAPO Syndrome
2013 |
1. lékařská fakulta
publication
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
2013 |
1. lékařská fakulta
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
1. lékařská fakulta, 3. lékařská fakulta
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 |
1. lékařská fakulta
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