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genetické testování
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Person
Publication
Programmes
MUDr. Ivan Šubrt Ph.D.
Academic staff at Faculty of Medicine in Pilsen
2 classes
76 publications
Classes
class
Clinical Genetics
E0110039 |
Faculty of Medicine in Pilsen
class
Medical Genetics
EA0110039 |
Faculty of Medicine in Pilsen
Publications
publication
Recent development of diagnostic methods in medical genetics
2019 |
Faculty of Medicine in Pilsen
publication
Nález patogenní varianty genu PALB2 v rodině sledované pro nefrogenní diabetes insipidus
2018 |
Faculty of Medicine in Pilsen
publication
Options and consequences of genetic testing in patients with high risk of breast and ovarian cancer due to BRCA1 and BRCA2 mutations
2015 |
Faculty of Medicine in Pilsen
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Faculty of Medicine in Pilsen
publication
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
2024 |
Faculty of Medicine in Pilsen
publication
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
2023 |
Central Library of Charles University, Faculty of Medicine in Pilsen, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
Faculty of Medicine in Pilsen, First Faculty of Medicine, Faculty of Science
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2023 |
Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines
2023 |
Faculty of Medicine in Pilsen
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