- Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries2021 | 1. lékařská fakulta
- Mutational Spectrum of the CFTR Gene in the Kazakhstan Population2022 | 2. lékařská fakulta
- The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease2005 | 2. lékařská fakulta
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | 2. lékařská fakulta
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | 2. lékařská fakulta
- Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia2005 | 3. lékařská fakulta
- Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome2013 | 2. lékařská fakulta
- Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome2013 | Publikace bez příslušnosti k fakultě
- Sanfilippo syndrom typ C: přehled mutací v genu pro heparan sulfát acetyl-CoA: alpha-glucosaminide N-acetyltransferasu (HGSNAT)2009 | 1. lékařská fakulta
- Mutational analysis of driver genes defines the colorectal adenoma: in situ carcinoma transition2022 | 1. lékařská fakulta, 3. lékařská fakulta, Fakulta tělesné výchovy a sportu, Lékařská fakulta v Plzni
- Heterogenous mutation spectrum and deregulated cellular pathways in aberrant plasma cells underline molecular pathology of light-chain amyloidosis2021 | Lékařská fakulta v Plzni
- The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases2020 | 1. lékařská fakulta
- Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation2011 | 2. lékařská fakulta
- Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome2008 | 2. lékařská fakulta
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | 2. lékařská fakulta
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | 2. lékařská fakulta
- The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene2016 | Lékařská fakulta v Plzni
- Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness2004 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- The landscape of epilepsy-related GATOR1 variants2019 | 2. lékařská fakulta
- Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech populationPublikace bez příslušnosti k fakultě
- Overview on population screening for carriers with germline BRCA mutation in China2022 | Lékařská fakulta v Plzni
- Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors2014 | 1. lékařská fakulta
- Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency2023 | 1. lékařská fakulta