- Charakterizace dvou "missense" variant v genu pro hydroxymetylbilansyntázy v izraelské populaci, které se liší asociací s akutní intermitentní porfýrií2008 | 1. lékařská fakulta
- KMT2B Rare Missense Variants in Generalized Dystonia2017 | 1. lékařská fakulta
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants2020 | Matematicko-fyzikální fakulta
- ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk2023 | Ústřední knihovna, 1. lékařská fakulta
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | 2. lékařská fakulta
- MISCAST: MIssense variant to protein StruCture Analysis web SuiTe2020 | Matematicko-fyzikální fakulta
- Shifting landscapes of human MTHFR missense-variant effects2021 | 1. lékařská fakulta
- Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations2012 | 1. lékařská fakulta
- A missense variant in GLP1R gene is associated with the glycaemic response to treatment with gliptins2016 | 2. lékařská fakulta
- Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease2022 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss2023 | 1. lékařská fakulta, 3. lékařská fakulta
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder2022 | 2. lékařská fakulta
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 | Ústřední knihovna
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- SPG11: clinical and genetic features of seven Czech patients and literature review2022 | 1. lékařská fakulta, 2. lékařská fakulta
- Dědičné mutace v genu CHEK2 jako příčina dispozice k nádorům prsu - typy mutací, jejich biologická a klinická relevance2019 | 1. lékařská fakulta
- No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients2018 | 3. lékařská fakulta
- Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 | 2. lékařská fakulta
- A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma2023 | 1. lékařská fakulta, 3. lékařská fakulta, Lékařská fakulta v Plzni
- Could polymorphisms in ATP-binding cassette C3/multidrug resistance associated protein 3 (ABCC3/MRP3) modify colorectal cancer risk?2008 | Ústřední knihovna, 1. lékařská fakulta
- A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy2021 | 2. lékařská fakulta
- A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase2020 | 1. lékařská fakulta
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023 | 1. lékařská fakulta, 2. lékařská fakulta
- HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family2022 | Ústřední knihovna
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | 2. lékařská fakulta
- Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome2021 | 1. lékařská fakulta
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | 2. lékařská fakulta