- Deficit of Lysosomal Sphingomyelinase Phenotype: Spectrum of the Czech and Slovak Patients2001 | Faculty of Physical Education and Sport
- The phenotypic spectrum of SCN8A encephalopathy2015 | Second Faculty of Medicine
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene2006 | First Faculty of Medicine
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines2021 | First Faculty of Medicine
- The phenotypic spectrum of fifty Czech m.3243A > G carriers2016 | First Faculty of Medicine
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Second Faculty of Medicine
- Lysosomal sphingomyelinase deficiency: Phenotype spectrum of the Czech and Slovak patients2001 | First Faculty of Medicine
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Publication without faculty affiliation
- Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency2016 | First Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University
- Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum2010 | Second Faculty of Medicine
- Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome2008 | Second Faculty of Medicine
- Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations2021 | Faculty of Medicine in Hradec Králové
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation2015 | First Faculty of Medicine
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 | First Faculty of Medicine
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype2015 | First Faculty of Medicine
- Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early-onset colonic diverticular disease2020 | Faculty of Physical Education and Sport
- The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions2020 | Second Faculty of Medicine, First 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
- GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency2013 | Second Faculty of Medicine
- Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.2001 | Faculty of Medicine in Pilsen
- PLAG1-Rearranged Uterine Sarcomas Show a Wide Phenotypical Spectrum Encompassing but Not Limited to Myxoid Leiomyosarcoma-like Morphology and Frequently Exhibit Heterologous Differentiation: A Study of 8 CasesPublication without faculty affiliation
- The Gene Score for Predicting Hypertriglyceridemia: New Insights from a Czech Case-Control Study2019 | First Faculty of Medicine
- Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders2016 | First Faculty of Medicine
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Impact of age at onset and newborn screening on outcome in organic acidurias2016 | First Faculty of Medicine
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome2021 | Faculty of Medicine in Hradec Králové
- Childhood overgrowth in patients with common NF1 microdeletions2005 | Second Faculty of Medicine
- Psycho-organic symptoms as early manifestation of adult onset POMT1 - related limb girdle muscular dystrophy2014 | Second Faculty of Medicine