- 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
- SURF1 missense mutations promote a mild Leigh phenotype2009 | First Faculty of Medicine
- 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
- KMT2B Rare Missense Variants in Generalized Dystonia2017 | First Faculty of Medicine
- 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
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | Second Faculty of Medicine
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants2020 | Faculty of Mathematics and Physics
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | Second Faculty of Medicine
- ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk2023 | First Faculty of Medicine, Central Library of Charles University
- Shifting landscapes of human MTHFR missense-variant effects2021 | First Faculty of Medicine
- MISCAST: MIssense variant to protein StruCture Analysis web SuiTe2020 | Faculty of Mathematics and Physics
- Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations2012 | First Faculty of Medicine
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains2017 | Second Faculty of Medicine
- Missense variations in the cystic fibrosis gene: Heteroduplex formation in the F508C mutation1992 | Central Library of Charles University
- A missense variant in GLP1R gene is associated with the glycaemic response to treatment with gliptins2016 | Second Faculty of Medicine
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | Third Faculty of Medicine
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | First Faculty of Medicine
- Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease2022 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss2023 | First Faculty of Medicine, 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
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder2022 | Second 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
- Homozygous missense mutation in SLC 12A3 gene caused Gitelmanś syndrome with chondrocalcinosisPublication without faculty affiliation
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine
- The impact of PROS1 mutation position on thrombotic risk in protein S–deficient patients2023 | Faculty of Physical Education and Sport