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allelic variants
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MLST typing of Treponema pallidum subsp. pallidum in the Czech Republic during 2004- 2017: Clinical isolates belonged to 25 allelic profiles and harbored 8 novel allelic variants
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Prevalence of URAT1 allelic variants in the Roma population
2016 |
First Faculty of Medicine
publication
Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population
2012 |
First Faculty of Medicine
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
Faculty of Science, First Faculty of Medicine
publication
Role of Heme Oxygenase-1 in Human Endothelial Cells Lesson From the Promoter Allelic Variants
2010 |
First Faculty of Medicine
publication
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
2020 |
First Faculty of Medicine
publication
Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants
2015 |
Faculty of Medicine in Hradec Králové, Faculty of Pharmacy in Hradec Králové
publication
Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout
2014 |
Faculty of Science, First Faculty of Medicine
publication
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
2013 |
Faculty of Science, First Faculty of Medicine, Third Faculty of Medicine
publication
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
2007 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Functional non-synonymous variants of ABCG2 and gout risk
2017 |
Faculty of Physical Education and Sport, First Faculty of Medicine
publication
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R
2022 |
First Faculty of Medicine
publication
Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma
2011 |
Faculty of Medicine in Hradec Králové
publication
Analysis of a Promoter Polymorphism in the SMDF Neuregulin 1 Isoform in Schizophrenia
2009 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine
publication
Molecular Genetic Background of an Autosomal Dominant Hypercholesterolemia in the Czech Republic
2017 |
First Faculty of Medicine
publication
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis
2016 |
First Faculty of Medicine
publication
Antigenic variability of Bordetella pertussis strains isolated in 1967-2010 in the Czech Republic - possible explanation for the rise in cases of pertussis?
2015 |
Third Faculty of Medicine
publication
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: Involvement of nonsense-mediated mRNA decay
2007 |
Second Faculty of Medicine
publication
Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
2014 |
First Faculty of Medicine
publication
Genetic determinants of folate status in Central Bohemia
2005 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Inherited variability in a master regulator polymorphism (rs4846126) associates with survival in 5-FU treated colorectal cancer patients
2014 |
First Faculty of Medicine
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
First Faculty of Medicine
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta
2016 |
First Faculty of Medicine
publication
Meiotic epigenetic factor PRDM9 impacts sperm quality of hybrid mice
2020 |
Central Library of Charles University
publication
Attenuation of Hypocretin/Orexin Signaling Is Associated With Increased Mortality After Myocardial Infarction
2023 |
First Faculty of Medicine
publication
Divergent evolution drives high diversity of toll-like receptors (TLRs) in passerine birds: Buntings and finches
2023 |
Faculty of Science
publication
HLA class II, MICA and PRL gene polymorphisms: the common contribution to the systemic lupus erythematosus development in Czech population
2011 |
Faculty of Science, Faculty of Physical Education and Sport, Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine