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Search for publications relevant for "deleterious mutations"
deleterious mutations
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publication
Long-Term Balancing Selection and the Genetic Load Linked to the Self-Incompatibility Locus in Arabidopsis halleri and A. lyrata
2023 |
Faculty of Science
publication
Pervasive population genomic consequences of genome duplication in Arabidopsis arenosa
2019 |
Faculty of Science
publication
Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.
2009 |
First Faculty of Medicine
publication
The c.657de15 variant in the NBN gene predisposes to pancreatic cancer
2016 |
First Faculty of Medicine
publication
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
2013 |
Second Faculty of Medicine
publication
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
2013 |
Publication without faculty affiliation
publication
The evolution of the additive variance of a trait under stabilizing selection after autopolyploidization
2022 |
Faculty of Science
publication
Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
2015 |
First Faculty of Medicine
publication
Lysosomal acid lipase deficiency in differential diagnosis of familial hypercholesterolemia
2019 |
First Faculty of Medicine
publication
Polyploidization as an opportunistic mutation: The role of unreduced gametes formation and genetic drift in polyploid establishment
2022 |
Faculty of Science
publication
Lysosomal acid lipase deficiency - differential diagnosis and treatment options in 2022
2022 |
First Faculty of Medicine
publication
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
CD36-deficient congenic strains show improved glucose tolerance and distinct shifts in metabolic and transcriptomic profiles
2012 |
First Faculty of Medicine
publication
Rare case of patient with DiGeorge syndrome and limbs anomalies: the benefit of SNP microarray analysis?
2015 |
Second Faculty of Medicine
publication
CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors
2022 |
Faculty of Medicine in Pilsen
publication
Polyclonal Spread of Fosfomycin Resistance among Carbapenemase-Producing Members of the Enterobacterales in the Czech Republic
2023 |
Faculty of Medicine in Pilsen