Classes
- Examination Methods in Medical GeneticsD01000107 | Second Faculty of Medicine
- Medical Ecology and EcogeneticsD01000105 | Second Faculty of Medicine
- Human ecology and ecogenetics +1D0100017 | Second Faculty of Medicine
- Geographical Medicine +1D0100018 | Second Faculty of Medicine
- Reproductive Medicine and Reproductive GeneticsD0100021 | Second Faculty of Medicine
- Examination methods in medical cytogenetics +1D0100053 | Second Faculty of Medicine
- Advances in Molecular Genetics +2D0100093 | Second Faculty of Medicine
- Medical Biology ID0102037 | Second Faculty of Medicine
- Reproductive Genetics and Reproductive Medicine +1D0108241 | Second Faculty of Medicine
- Clinical Genetics +1D0108325 | Second Faculty of Medicine
Publications
- Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study2023 | Central Library of Charles University, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine, Faculty of Medicine in Pilsen
- The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood2023 | Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Pilsen
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
- Complex CFTR alleles in the era of CFTR modulator therapy: a case report2023 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Pilsen
- Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases2023 | Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine
- Roma population and selected aspects of health care2023 | Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Second Faculty of Medicine, Faculty of Science
- Reply to Letter by Tellier et al., Scientific refutation of ESHG statement on embryo selection2023 | Second Faculty of Medicine
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
- Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination2023 | Second Faculty of Medicine
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