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Ing. Kateřina Hodaňová Ph.D.
Academic staff at First Faculty of Medicine
48 publications
Publications
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
First Faculty of Medicine
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
First Faculty of Medicine
publication
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
2018 |
First Faculty of Medicine
publication
Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
2018 |
First Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
2018 |
First Faculty of Medicine
publication
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
2016 |
First Faculty of Medicine
publication
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
2013 |
First Faculty of Medicine
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
First Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
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