- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | 2. lékařská fakulta
- RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk2016 | 1. lékařská fakulta
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, 3. lékařská fakulta
- Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios2014 | Publikace bez příslušnosti k fakultě
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome2015 | 2. lékařská fakulta
- Korelace genotypů a fenotypů u pacientů s Duchennovou a Beckerovou muskulární dystrofií způsobenou delecemi v dystrofinovém genu2002 | Publikace bez příslušnosti k fakultě
- X-vázaná myotubulární myopatie u dvou bratrů v důsledku nové mutace v MTM1 genu - kazuistiky2013 | 1. lékařská fakulta, 2. lékařská fakulta
- Interaction between TNFone and tetrapyrroles may account for their anti-genotoxic effects - a novel mechanism for DNA-protection2013 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | 1. lékařská fakulta
- Kongenitální centrální hypoventilační syndrom (Ondinina kletba)2015 | Lékařská fakulta v Hradci Králové
- Proč má DNA tři terminační triplety a jen jeden iniciační?2012 | 1. lékařská fakulta
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | 1. lékařská fakulta, 2. lékařská fakulta
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- Rare deleterious germline variants and risk of lung cancer2021 | 2. lékařská fakulta
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | 2. lékařská fakulta
- A rare large duplication of MLH1 identified in Lynch syndrome2021 | Lékařská fakulta v Plzni
- Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke-Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens2013 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Mutations in STK11 gene in Czech Peutz-Jeghers patients2009 | 2. lékařská fakulta
- Louis-Barové syndrom (ataxia teleangiectasia) v konsanguinní rodině2006 | 2. lékařská fakulta
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | 2. lékařská fakulta
- Alagille Syndrome Mimicking Biliary Atresia in Early Infancy2015 | 2. lékařská fakulta
- The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1 beta Mutations2020 | 1. lékařská fakulta
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | 1. lékařská fakulta
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy2019 | 1. lékařská fakulta
- Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases2020 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | 1. lékařská fakulta
- Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 32013 | 1. lékařská fakulta
- Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma2015 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients2016 | 2. lékařská fakulta
- Unpacking Pandora From Its Box: Deciphering the Molecular Basis of the SARS-CoV-2 Coronavirus2021 | 3. lékařská fakulta