objective: interaction between genetic and environmental factors is considered as major factors in schizophrenia (scz). it has been shown that dopaminergic and noradrenergic neurotransmission dysfunction play an essential role in the scz pathogenesis. this study aimed to find the impact of functional 19-bp insertion/deletion (ins/del) polymorphism in dopamine beta-hydroxylase (dbh) gene on scz ...

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Stefan M, Zapolnik P, Pyrkosz A. Deletion of the RNF6 gene in a patient with epileptic encephalopathy – case report and literature review. Pediatria Polska - Polish Journal Paediatrics. 2022:257-261. doi:10.5114/polp.2022.120119. APA Stefan, M., Zapolnik, P., & Pyrkosz, (2022). Paediatrics, 257-261. https://doi.or...

Abstract Based on the analysis and comparison of legal regulation existing case law, authors present in paper their opinion issue deleting mortgage with statute-barred claim from public records (Land Registry). The Slovak regulation, contrast Czech one, does not include an explicit provision enabling deletion Land Registry. Taking into consideration aspect justice, reached conclusion that even ...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...