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Št. zadetkov: 6
Izvirni znanstveni članek
Oznake: rare diseases;identification;interpretation;genetic diagnosis;genomic variants;
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake: ageing;fibroblast;connective tissue;oxidative stress;protein expression;elastin;
Several studies have analyzed modulation of gene expression during physiological ageing with interesting, but often contradictory results, depending on the model used. In the present report we compare age-related metabolic and synthetic parameters in human dermal fibroblasts (HDF) isolated from youn ...
Leto: 2010 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
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Oznake: superkisline;
Leto: 2009 Vir: Repozitorij Univerze v Ljubljani (RUL)
Izvirni znanstveni članek
Oznake: human fibroblast;primary cell cultur;hypoxia;connective tissue;proteome;2D gel electrophoresis;mass-spectrometry;
The ability of cells to respond to changes in oxygen availability is critical for many physiological and pathological processes (i.e. development, aging, wound healing, hypertension, cancer). Changes in the protein profile of normal human dermal fibroblasts were investigated in vitro after 96 h in ...
Leto: 2007 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Izvirni znanstveni članek
Oznake: heparan sulfate;elastin;fibroblasts;
Heparan sulfate (HS), due to its presence on the cell surface and in the extracellular milieu and its ability to modulate cell signaling, has a fundamental role in both physiological and pathological conditions. For decades we have demonstrated the occurrence of interactions between glycosaminogly ...
Leto: 2012 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Izvirni znanstveni članek
Oznake: Enterococcus spp.;faecal indicator bacteria;loop-mediated isothermal amplification;microbiological water quality;low-resource methods;molecular diagnostics;
Faecal pollution of water and the resulting potential presence of human enteric pathogens is a predominant threat to public health. Microbiological water quality can be assessed by the detection of standard faecal indicator bacteria (SFIB) such as E. coli or certain Enterococcus species. In recent y ...
Leto: 2017 Vir: Biotehniška fakulteta (UL BF)
Št. zadetkov: 6
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