- A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease2002 | Faculty of Physical Education and Sport
- SURF1 missense mutations promote a mild Leigh phenotype2009 | First Faculty of Medicine
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains2017 | Second Faculty of Medicine
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | Third Faculty of Medicine
- Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulphatase A in the endoplasmic reticulum2005 | First Faculty of Medicine
- Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulphatase A in the endoplasmic reticulum2005 | Faculty of Physical Education and Sport
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | First Faculty of Medicine
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019 | Second Faculty of Medicine
- Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity1995 | Central Library of Charles University
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | First Faculty of Medicine
- Homozygous missense mutation in SLC 12A3 gene caused Gitelmanś syndrome with chondrocalcinosisPublication without faculty affiliation
- GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase2009 | First Faculty of Medicine
- A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease2002 | First Faculty of Medicine
- The impact of PROS1 mutation position on thrombotic risk in protein S–deficient patients2023 | Faculty of Physical Education and Sport
- Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control2021 | First Faculty of Medicine, Faculty of Science, Second Faculty of Medicine
- Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress2022 | Central Library of Charles University
- Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens2010 | Publication without faculty affiliation
- Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue2021 | Faculty of Science, Central Library of Charles University
- Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit2018 | Faculty of Science, Central Library of Charles University
- Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Firinogen Plzeň2009 | Central Library of Charles University
- Cystic fibrosis patients bearing both the common missense mutation GlyRIGHTWARDS ARROWAsp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus1992 | Second Faculty of Medicine
- Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen2009 | Publication without faculty affiliation
- Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature2011 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations2010 | Second Faculty of Medicine
- Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria2008 | First Faculty of Medicine
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | Second Faculty of Medicine
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | First Faculty of Medicine
- Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family2012 | Second Faculty of Medicine
- Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein2011 | First Faculty of Medicine, Faculty of Science
- Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein2011 | First Faculty of Medicine