- Gene symbol: HMBS. Disease: Porphyria, acute intermittent2008 | First Faculty of Medicine
- Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria2008 | First Faculty of Medicine
- De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study2006 | First Faculty of Medicine
- May 2006 Update in Porphobilinogen Deaminase Gene Polymorphisms and Mutations Causing Acute Intermittent Porphyria. Comparison with the Situation in Slavic Population2006 | First Faculty of Medicine
- Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties2009 | 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
- Molecular pathology of heme biosynthesis. Porphobilinogen deaminase: Novel mutation in Czech and Slovak patients with acute intermittent porphuriaPublication without faculty affiliation
- Acute intermittent porphyria: New mutations found in the porphobilinogen deaminase gene in Czech and Slovak patientsPublication without faculty affiliation
- Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties2009 | Publication without faculty affiliation
- Molecular pathology of two special cases of acute intermittent porphyriaPublication without faculty affiliation
- Acute Intermittent Porphyria: The Biochemical and Enzymatic Protein PropertiesPublication without faculty affiliation
- A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family2007 | First Faculty of Medicine
- A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family2007 | Faculty of Physical Education and Sport
- Two special Case of acute intermittent porphyria: molecular biological studyPublication without faculty affiliation
- Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria2009 | Publication without faculty affiliation
- Novel mutation in Porphobilinogen deaminase gene in a family with acute intermittent porphyria from NepalPublication without faculty affiliation
- Novel mutations in the porphobilinogen deaminase gene in Czech acute intermittent porphyria patiensPublication without faculty affiliation
- Mutations and polymorphisms porphobilinogen deaminase gene: Defects which result in acute intermittent porphyria: May 2006 update with the list of mutations in Slavic population2006 | First Faculty of Medicine
- Mutations and polymorphisms porphobilinogen deaminase gene: Defects which result in acute intermittent porphyria: May 2006 update with the list of mutations in Slavic population2006 | Faculty of Physical Education and Sport
- Novel mutations in the porphobilinogen deaminase gene in Czech and Slovak acute intermittent porphyria patientsPublication without faculty affiliation
- Acute intermittent porphyria: impact of newly found mutations on the biochemical and enzymatic protein propertiesPublication without faculty affiliation
- Acute intermittent porphyria: identification of three novel mutations in the porphobilinogen deaminase gene in Czech and Slovak patientsPublication without faculty affiliation
- Acute intermittent porphyria: impact of newly found mutations on the biochemical and enzymatical protein properties (2)Publication without faculty affiliation
- Acute intermittent porphyria: impact of newly found mutations on the biochemical and enzymatic protein properties (1)Publication without faculty affiliation
- Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation2010 | First Faculty of Medicine
- Mutation screening in newly (2004) diagnozed patiens with acute intermittent porphyria from Czech and Slovak RepublicsPublication without faculty affiliation
- Molecular analysis of the porphobilinogen deaminase gene in newly (2004) diagnozed Czech and Slovak acute intermittent porphyria patients: Report of three novel mutationsPublication without faculty affiliation
- Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis2009 | First Faculty of Medicine
- Gene expression imputation across multiple brain regions provides insights into schizophrenia risk2019 | Second Faculty of Medicine
- EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks2020 | First Faculty of Medicine