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Ing. Kateřina Hodaňová Ph.D.
Academic staff at First Faculty of Medicine
48 publications
Publications
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
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
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
2016 |
First Faculty of Medicine
publication
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 |
First Faculty of Medicine
publication
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene
2013 |
First Faculty of Medicine
publication
Mutations in ANTXR1 Cause GAPO Syndrome
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
publication
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 |
First Faculty of Medicine
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