Advanced

 
  Search
    Simple search


Results

56 results
1 - 10 / 56
First pagePrevious page123456Next pageLast page
1. Genetska analiza hipogonadotropnega hipogonadizma s sekvenciranjem naslednje generacije
Tamara Obreza, 2015, master's thesis

Keywords: hipotalamično hipofizno gonadni sistem, klasifikacija hipogonadizma, hipogonadotropni hipogonadizem, Kallmannov sindrom, sekvenciranje naslednje generacije, sekvenciranje po Sangerju
Full text (outside link)

2. Biomarkers of Fabry nephropathy
Tina Levstek, Bojan Vujkovac, Katarina Trebušak Podkrajšek, 2020, review article

Keywords: Fabry nephropathy, biomarkers, genomics, Fabry disease, nephropathy, epigenomics, metabolomics, proteomics, transcriptomics
Full text (file, 837,64 KB) This document has more files! More...

3. Verifikacija metode tekočinske kromatografije visoke ločljivosti za določanje fenilalanina in tirozina
Nives Škafar, 2019, master's thesis

Keywords: presnovne motnje, fenilketonurija, fenilalanin, tirozin, metoda HPLC-UV, metoda HPLC-MS/MS
Full text (file, 2,26 MB)

4. LPA genotypes and haplotypes are associated with lipoprotein(a) levels but not arterial wall properties in stable post-coronary event patients with very high lipoprotein(a) levels
Andreja Rehberger Likozar, Aleš Blinc, Katarina Trebušak Podkrajšek, Miran Šebeštjen, 2021, original scientific article

Keywords: coronary artery disease, LPA genotypes, haplotypes, lipoprotein(a), rs10455872, rs3798220, KIV-2 repeats
Full text (file, 1,23 MB) This document has more files! More...

5. Novel GRHL2 gene variant associated with hearing loss
Katarina Trebušak Podkrajšek, Tine Tesovnik, Nina Božanić Urbančič, Saba Battelino, 2021, review article

Keywords: autosomal-dominant hearing loss, next-generation sequencing, NGS, GRHL2 gene
Full text (file, 2,66 MB) This document has more files! More...

6. Urinary extracellular vesicles and their miRNA cargo in patients with Fabry nephropathy
Tina Levstek, Teo Mlinšek, Marija Holcar, Katja Goričar, Metka Lenassi, Vita Dolžan, Bojan Vujkovac, Katarina Trebušak Podkrajšek, 2021, original scientific article

Keywords: Fabry nephropathy, urinary extracellular vesicles, miRNA expression, biomarker, NTA, Fabry disease, lysosomal storage disease
Full text (file, 299,24 KB) This document has more files! More...

7. Vpliv izbranih vrst variant gena za apolipoprotein E na koncentracije plazemskih lipidov pri bolniih s sladkorno boleznijo tipa 1
Anja Švigelj, 2014, master's thesis

Keywords: spremembe, gen za apolipoprotein E, trigliceridi, metabolizem lipidov, apolipoproteini, etiopatogeneza sladkorne bolezni
Full text (outside link)

8. Vloga genetskih variant promotorske regije gena DEPTOR pri razvoju debelosti in inzulinske rezistence
Tamara Šutuš Temovski, 2014, master's thesis

Keywords: tarča rapamicina pri sesalcih, insulinsko signaliziranje, domeno DEP-vsebujoči protein
Full text (outside link)

9. Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant
Jasna Šuput Omladič, Maja Pajek, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj Stefanija, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger, 2021, original scientific article

Keywords: familial non-autoimmune autosomal dominant hyperthyroidism, FNAH, TSHR, radioiodine ablation therapy, central hypothyroidism
Full text (file, 785,05 KB) This document has more files! More...

10. Genetske značilnosti hiperholesterolemij pri otrocih in mladostnikih v Sloveniji
Gašper Klančar, 2016, doctoral dissertation

Keywords: pediatrija, hiperholesterolemija, otrok, mladostnik, hiperproteinemija tipa II, masovni presejalni test, genetske tehnike
Full text (file, 3,99 MB)
Search done in 0.05 sec.
Back to top