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gene cause
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RNDr. Markéta Šafaříková Ph.D.
External person at First Faculty of Medicine
12 publications
Publications
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Science, Faculty of Medicine in Pilsen
publication
New methodology of TMB assessment from tissue and liquid biopsy in NSCLC
2022 |
First Faculty of Medicine
publication
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
2021 |
First Faculty of Medicine
publication
The verification of the applicability of NPHS2/SYNPO ratio for diagnosis of FSGS and MCD
2016 |
First Faculty of Medicine
publication
A pilot study conducted in the Czech Republic relating to the molecular analysis of the RET and GDNF genes in patients with cakut, predominantly unilateral renal agenesis
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Mutational Analysis of ACTN4, Encoding alpha-Actinin 4, in Patients with Focal Segmental Glomerulosclerosis Using HRM Method
2013 |
First Faculty of Medicine
publication
Circulating Cell-Free DNA Extraction from Liquid Biopsy for Cancer Research
2022 |
First Faculty of Medicine
publication
The effects of different storage conditions and repeated freeze/thaw cycles on the concentration, purity and integrity of genomic DNA
2021 |
First Faculty of Medicine
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