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collaborative analysis
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Person
Publication
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prof. MUDr. Milan Macek DrSc.
Academic staff at Second Faculty of Medicine
32 classes
291 publications
Classes
class
Medical Ecology and Ecogenetics
D01000105 |
Second Faculty of Medicine
class
Examination Methods in Medical Genetics
D01000107 |
Second Faculty of Medicine
class
Human ecology and ecogenetics
+1
D0100017 |
Second Faculty of Medicine
class
Geographical Medicine
+1
D0100018 |
Second Faculty of Medicine
class
Reproductive Medicine and Reproductive Genetics
D0100021 |
Second Faculty of Medicine
class
Examination methods in medical cytogenetics
+1
D0100053 |
Second Faculty of Medicine
class
Advances in Molecular Genetics
+2
D0100093 |
Second Faculty of Medicine
class
Medical Biology I
D0102037 |
Second Faculty of Medicine
class
Reproductive Genetics and Reproductive Medicine
+1
D0108241 |
Second Faculty of Medicine
class
Clinical Genetics
+1
D0108325 |
Second Faculty of Medicine
Load more classes (22)
Publications
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, 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
publication
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 childhood
2023 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Complex CFTR alleles in the era of CFTR modulator therapy: a case report
2023 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases
2023 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine
publication
Roma population and selected aspects of health care
2023 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Second Faculty of Medicine, Faculty of Science
publication
Reply to Letter by Tellier et al., Scientific refutation of ESHG statement on embryo selection
2023 |
Second Faculty of Medicine
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
Second Faculty of Medicine
publication
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 combination
2023 |
Second Faculty of Medicine
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