- Inherited disorders of mitochondrial ATP synthase2004 | Faculty of Physical Education and Sport
- Inherited disorders of carbohydrate metabolism2023 | First Faculty of Medicine
- Inherited disorders of inflammatory response2009 | Publication without faculty affiliation
- Inherited disorders of inflammatory response2009 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Inherited disorders of inflammatory response2009 | Second Faculty of Medicine
- Warfarin-induced hemorrhagic pseudocyst in the pelvic of a woman with an inherited disorder of blood coagulation., complicated by pelvic bone pseudoxanthoma minicking Erdheim-Chester disease2007 | Central Library of Charles University
- Inherited disorders of mitochondrial ATP synthase2004 | First Faculty of Medicine
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines2021 | First Faculty of Medicine
- Inherited disorders of sulfur amino acid metabolism: recent advances in therapy2021 | First Faculty of Medicine
- FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide2007 | Second Faculty of Medicine
- Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients2021 | First Faculty of Medicine
- Warfarin-induced hemorrhagic pseudocyst in the pelvic of a woman with an inherited disorder of blood coagulation., complicated by pelvic bone pseudoxanthoma minicking Erdheim-Chester disease2007 | Faculty of Medicine in Pilsen
- Warfarin-induced hemorrhagic pseudocyst in the pelvic of a woman with an inherited disorder of blood coagulation., complicated by pelvic bone pseudoxanthoma minicking Erdheim-Chester disease2007 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism2012 | First Faculty of Medicine
- Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease2019 | Central Library of Charles University
- Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances2015 | First Faculty of Medicine
- Nationwide screening for Fabry disease in unselected stroke patients2021 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
- Institutional Profile Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine2012 | Second Faculty of Medicine
- Human variome project country nodes: Documenting genetic information within a country2012 | Second Faculty of Medicine
- Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure2007 | Second Faculty of Medicine
- Wilson's disease2009 | First Faculty of Medicine
- Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report2009 | Second Faculty of Medicine
- Familial adenomatous polyposis2009 | First Faculty of Medicine
- Preimplantation genetic diagnosis and monogenic inherited eye diseases2016 | First Faculty of Medicine
- Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria2009 | First Faculty of Medicine
- Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria2009 | Publication without faculty affiliation
- Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn2013 | Faculty of Medicine in Hradec Králové
- Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant2014 | Faculty of Medicine in Hradec Králové
- Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies2022 | Faculty of Pharmacy in Hradec Králové
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | First Faculty of Medicine