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rare variants
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publication
Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer
2018 |
Second Faculty of Medicine
publication
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
2015 |
Third Faculty of Medicine, First Faculty of Medicine
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science, Faculty of Mathematics and Physics
publication
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Statistical analysis strategies for association studies involving rare variants
2010 |
Faculty of Medicine in Hradec Králové
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
First Faculty of Medicine, Faculty of Science
publication
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
2016 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
A very rare variant in the colon supply - arteria mesenterica media
2009 |
Third Faculty of Medicine
publication
Rare Variant of the Replaced Common Hepatic Artery During Pancreaticoduodenectomy
2022 |
Central Library of Charles University
publication
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
2014 |
First Faculty of Medicine
publication
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
2017 |
Second Faculty of Medicine
publication
Agenesis of the Superior Cornua of the Thyroid Cartilage A Rare Variant of Medicolegal Importance
2015 |
Faculty of Medicine in Hradec Králové
publication
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
2019 |
Second Faculty of Medicine
publication
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
2023 |
Second Faculty of Medicine
publication
Spiradenoma with Adenoid Cystic Carcinoma-like Changes: A Case Series of This Rare Variant with a Potential Diagnostic Pitfall
2023 |
Faculty of Medicine in Pilsen
publication
SMARCB1-Deficient Sinonasal Adenocarcinoma: Rare Variant of SWI/SNF-Deficient Malignancy often Misclassified as High-Grade Non-Intestinal Adenocarcinoma or Myoepithelial Carcinoma
Publication without faculty affiliation
publication
Osseous suprascapular canal: rare variant that would hinder suprascapular nerve block and posterior surgical approach
2022 |
Second Faculty of Medicine, Faculty of Science
publication
Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort
2022 |
First Faculty of Medicine, Faculty of Science
publication
Scoping review of the palmaris profundus muscle: anatomy of a rare variant and its role in carpal tunnel syndrome
2023 |
Central Library of Charles University, Second Faculty of Medicine
publication
Gene-based evidence for burden of rare pathogenic variants in pharmacogenes and oncogens of Czech breast cancer patients
2019 |
Faculty of Medicine in Pilsen, First Faculty of Medicine
publication
Primary cutaneous follicle center lymphoma with diffuse CD30 expression: A report of 4 cases of a rare variant
2014 |
Faculty of Medicine in Pilsen
publication
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion
2016 |
Second Faculty of Medicine
publication
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer (Reprinted from Nature Genetics vol 46, pg 736, 2014 10.1038/ng.3002)
2014 |
First Faculty of Medicine
publication
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
2014 |
First Faculty of Medicine
publication
Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis
2019 |
First Faculty of Medicine
publication
SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma
2023 |
Faculty of Medicine in Pilsen, Central Library of Charles University
publication
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study
2015 |
Third Faculty of Medicine, First Faculty of Medicine
publication
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
2021 |
Second Faculty of Medicine
publication
Genetics of neurodevelopmental disorders
2021 |
Second Faculty of Medicine