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Ing. Kateřina Hodaňová Ph.D.
Akademický pracovník na 1. lékařská fakulta
48 publikací
Publikace
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
1. lékařská fakulta
publication
Rare copy number variation in extremely impulsively violent males
2019 |
1. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
publication
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
1. lékařská fakulta
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
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
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
2016 |
1. lékařská fakulta
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
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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