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Sequencing
Person
Class
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
Benefits of targeted sequencing in noninvasive prenatal testing
2017 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G
2017 |
Faculty of Medicine in Pilsen
publication
Role of cytogenetic analysis in current management of childhood acute lymphoblastic leukemia treatment
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
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