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biomedicina slovenica |
"Genetika" : 1.151
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Osojnik Maja
Usodni alel
2021 ►
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Alhalabi Karam T; Stichel Damian; Sievers Philipp; Peterziel Heike; Sommerkamp Alexander C; Sturm Dominik; Wittmann Andrea; Sill Martin; Jäger Natalie; Beck Pengbo; Kitanovski Lidija
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum
2022 ►
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Lemmers Richard J. L. F.; Vliet Patrick van der; Blatnik Ana; Balogh Judit; Zidar Janez; Henderson D.; Goselink Rianne; Tapscott Stephen J.; Voermans Nicol C.; Tawil Rabi N.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
2022 ►
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Onengut-Gumuscu Suna; Chen Wei-Min; Burren Oliver; Cooper Nick J.; Quinlan Aaron R.; van der Spek Rick A. A.; Avbelj Stefanija Magdalena; Battelino Tadej
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
2015 ►
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Petrič Boštjan; Redenšek Trampuž Sara; Dolžan Vita; Bavec Aljoša
Paraoxonase 1 in Parkinson's disease dementia
2022 ►
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Vogrinc David; Goričar Katja; Čučnik Saša; Emeršič Andreja; Gregorič Kramberger Milica; Dolžan Vita
Genetic variability of oxidative stress response in Alzheimer’s disease
2022 ►
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Urh Kristian; Zidar Nina; Boštjančič Emanuela
Identification and validation of stem cell-related genes in colorectal cancerogenesis
2022 ►
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Šuštar Urša; Mlinarič Matej; Kovač Jernej; Sedej Katarina; Jenko Bizjan Barbara; Trebušak Podkrajšek Katarina; Battelino Tadej; Grošelj Urh
Universal hypercholesterolemia screening in pre-school children
2022 ►
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Pužar Dominkuš Pia; Mesić Aner; Hudler Petra
PLK2 haplotype and miR-23b-5p as potential biomarkers in gastric cancer
2022 ►
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Šalamon Arčan Iris; Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
Do epigenetic changes contribute to suicidality?
2022 ►
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Hadalin Vlasta; Buscarino Maša Marija; Sajovic Jana; Meglič Andrej; Volk Marija; Hawlina Marko; Fakin Ana
RPGR retinopathy in female carriers
2022 ►
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Zupan Andrej; Salapura Vladka; Šekoranja Daja; Pižem Jože
Whole transcriptome sequencing reveals novel PNISR-GRM1 gene fusion in chondromyxoid fibroma
2022 ►
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Šantek Iva; Serša Gregor; Markelc Boštjan
Tumor irradiation leads to transcriptional changes in tumor endothelial cells in mice
2022 ►
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Modic Živa; Jesenko Tanja; Kranjc Brezar Simona; Markelc Boštjan; Serša Gregor; Čemažar Maja
Establishment, characterization, and transcriptome analysis of HPV-positive mouse model of oral squamous cell carcinoma
2022 ►
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Božič Tim; Kozjek-Mencinger Lucija; Kranjc Brezar Simona; Serša Gregor; Šantek Iva; Čemažar Maja; Markelc Boštjan
Radiotherapy and gene electrotransfer of plasmid DNA encoding chemokines CCL5 and CCL17 elicit immunomodulatory effects in murine tumors
2022 ►
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Goričar Katja; Marinko Tanja; Dolžan Vita
Biomarkers of radiotherapy response in breast cancer reporter genes in two murine tumor cell lines in vitro
2022 ►
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Komel Tilen; Bošnjak Maša; Serša Gregor; Čemažar Maja
Concomitant gene electrotransfer of plasmids encoding GFP and DsRed reporter genes in two murine tumor cell lines in vitro
2022 ►
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Kuret Tadeja; Zottel Alja; Strle Igor; Zupančič Daša; Romih Rok
Multimodal approach to study the expression of the sensory proteins P2X and TRPV in urinary bladder cancer
2022 ►
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Ravnik-Glavač Metka; Goričar Katja; Vogrinc David; Koritnik Blaž; Lavrenčič Jakob Gašper; Glavač Damjan; Dolžan Vita
Common genetic polymorphisms as clinical modifiers of amyotrophic lateral sclerosis
2022 ►
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Kamenšek Urška; Jesenko Tanja; Čemažar Maja; Kos Špela; Markelc Boštjan; Kranjc Brezar Simona; Žnidar Katarina; Modic Živa; Komel Tilen; Reberšek Eva; Jakopič Helena; Gorše Tim; Serša Gregor
Gene electrotransfer for vaccination against COVID-19
2022 ►
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Markelc Boštjan; Jesenko Tanja; Čemažar Maja; Krnjak Kristina; Serša Gregor
Determination of SARS-CoV-2 virus tropism for human endothelial cells
2022 ►
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Štampar Patricija; Blagus Tanja; Goričar Katja; Bogovič Petra; Turel Gabriele; Strle Franc; Dolžan Vita
Genetic variability in the glucocorticoids pathway affect disease severity of COVID-19 patients
2022 ►
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Redenšek Trampuž Sara; Vogrinc David; Goričar Katja; Dolžan Vita
Neuroinflammation related miRNAs as an overlapping feature of COVID-19 and neurodegeneration
2022 ►
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Korva Miša; Knap Nataša; Resman Rus Katarina; Zakotnik Samo; Suljič Alen; Kogoj Rok; Avšič-Županc Tatjana
From genotype to phenotype
2022 ►
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Matjašič Alenka; Wechtersbach Karmen; Kavalar Rajko; Voršič Matjaž; Mlakar Jernej; Ravnik Janez; Popović Mara
Next-generation sequencing based clonality testing enables detection of clonal nature of B-lymphocytes in B-cell perivascular proliferation of brain aggregoma
2022 ►
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Debeljak Jerneja; Korošec Peter; Šelb Julij; Rijavec Matija; Košnik Mitja; Lunder Mojca
Implementation of experimental and bioinformatic approaches for identification of yellow jackets' major venom allergen Ves v 5 epitopes
2022 ►
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Rupar Nina; Šelb Julij; Košnik Mitja; Korošec Peter; Zidarn Mihaela; Andrejević Slađana; Rijavec Matija
Variant in CC2D2B gene influences the appearance of symptoms in patients with hereditary angioedema due to C1 inhibitor deficiency
2022 ►
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Svetina Manca; Košnik Mitja; Eržen Renato; Kopač Peter; Korošec Peter; Rijavec Matija
Increased gene expression of IL1R2 MMP9 and OSM during anaphylaxis
2022 ►
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Janev Aleksandar; Železnik Ramuta Taja; Erdani-Kreft Mateja
Human amniotic membrane preparations promote cell detachment and inhibit cell migration by suppressing focal adhesion kinase signalling
2022 ►
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Hrovat Katja; Molan Katja; Seme Katja; Ambrožič Jerneja
Genotyping of extended-spectrum [beta]-lactamase-producing Escherichia coli from lower respiratory tract the Central Slovenia region
2022 ►
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Goričar Katja
ESHG Pharmacogenetics Course
2022 ►
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Zorc Minja; Dovč Peter
Proceedings of Genetika 2022
2022 ►
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Šuštar Urša; Kordonouri Olga; Mlinarič Matej; Kovač Jernej; Arens Stefan; Sedej Katarina; Jenko Bizjan Barbara; Trebušak Podkrajšek Katarina; Danne Thomas; Battelino Tadej; Grošelj Urh
Universal screening for familial hypercholesterolemia in 2 populations
2022 ►
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Šalamon Arčan Iris; Kouter Katarina; Videtič Paska Alja
Depressive disorder and antidepressants from an epigenetic point of view
2022 ►
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Šuštar Urša; Grošelj Urh; Khan Sabeen; Shafi Saeed; Iqbal Khan M.; Kovač Jernej; Jenko Bizjan Barbara; Battelino Tadej; Sadiq Fouzia
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review
2022 ►
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Močnik Mirjam; Zagradišnik Boris; Marčun-Varda Nataša
Assessing 48 SNPs in hypertensive paediatric patients and young adults with review of genetic background of essential hypertension
2022 ►
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Tsermpini Evangelia Eirini; Glamočlija Una; Ulucan-Karnak Fulden; Redenšek Trampuž Sara; Dolžan Vita
Molecular mechanisms related to responses to oxidative stress and antioxidative therapies in COVID-19
2022 ►
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Pereza Nina; Terzić Rifet; Plašeska Karanfilska Dijana; Miljanović Olivera; Novaković Ivana; Poslon Željka; Ostojić Saša; Peterlin Borut
Current state of compulsory basic and clinical courses in genetics for medical students at medical faculties in Balkan countries with Slavic languages
2022 ►
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Tobias Edward; Avram Elena; Calapod Patricia; Cordier Christophe; Den Dunnen Johan T.; Ding Can; Dolžan Vita; Douzgou Houge Sofia; Lynch Sally Ann; O'Byrne James
The role of the European Society of Human Genetics in delivering genomic education
2022 ►
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Zimani Ana Nyasha; Kovanda Anja
Increasing genomic literacy through national genomic projects
2022 ►
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Pereza Nina; Peterlin Borut; Ostojić Saša; Poslon Željka
Editorial
2022 ►
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Pereza Nina; Peterlin Borut; Ostojić Saša; Kovanda Anja
The importance of genetic literacy and education in medicine
2022 ►
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Wabitsch Martin; Farooqi Sadaf; Flück Christa E; Bratina Nataša; Mallya Usha G; Stewart Murray; Garrison Jill; van den Akker Erica; Kühnen Peter
Natural history of obesity due to POMC, PCSK1, and LEPR deficiency and the impact of setmelanotide
2022 ►
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Machado Rajiv D; Welch Carrie L; Haimel Matthias; Bleda Marta; Colglazier Elizabeth; Coulson John D; Debeljak Maruša; Ekstein Josef; Fineman Jeffery R; Golden William Christopher; Vesel Samo
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
2022 ►
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Gorenc Nika; Kregar-Velikonja Nevenka
Genetski dejavniki zdravega staranja
[Genetic factors for healthy ageing]
2022 ►
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Wirth Thomas; Mariani Louise Laure; Bergant Gaber; Baulac Michel; Habert Marie-Odile; Drouot Nathalie; Ollivier Emmanuelle; Hodžić Alenka; Rudolf Gorazd; Nitschke Patrick
Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia parkinsonism
2022 ►
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Hrovat Katja; Rehberger Likozar Andreja; Zupan Janja; Šebeštjen Miran
Gene expression profiling of markers of inflammation, angiogenesis, coagulation and fibrinolysis in patients with coronary artery disease with very high lipoprotein(a) levels treated with PCSK9 inhibitors
2022 ►
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Illini Oliver; Fabikan Hannah; Swalduz Aurélie; Vikström Anders; Krenbek Dagmar; Schumacher Michael; Dudnik Elizabeth; Studnicka Michael; Öhman Ronny; Wurm Robert; Čufer Tanja; Mohorčič Katja; Hochmair Maximilian J
Real-world experience with capmatinib in MET exon 14-mutated non-small cell lung cancer (RECAP)
2022 ►
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Štunf Špela
Are miRNAs dynamic biomarkers in keratoconus?
2022 ►
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Hancock John M.
Mouse genetic and phenotypic resources as tools for human genetics
2013 ►
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Kouter Katarina; Alič Urban; Zupanc Tomaž; Videtič Paska Alja
Suicidal behaviour and epigenetics
2022 ►
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Brown Steve D. M.; Wurst Wolfgang; Kühn Ralf; Hancock John M.
The functional annotation of mammalian genomes
2009 ►
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Peterlin Borut; Ihan Alojz
Prof. dr. Borut Peterlin
2022 ►
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Šket Robert; Kotnik Primož; Jenko Bizjan Barbara; Kocen Valentina; Mlinarič Matej; Tesovnik Tine; Debeljak Maruša; Battelino Tadej; Kovač Jernej
Heterozygous genetic variants in autosomal recessive genes of the leptin-melanocortin signalling pathway are associated with the development of childhood obesity
2022 ►
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Miroševič Špela; Klemenc-Ketiš Zalika; Peterlin Borut
Family history tools for primary care
2022 ►
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Writzl Karin
Plod in novorojenček s sumom na genetske bolezni-pogled genetika
2022 ►
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Genetica
1919 ►
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Goldstein David B.; Schlötterer Christian
Microsatellites
1999 ►
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Zajec Ana; Trebušak Podkrajšek Katarina; Tesovnik Tine; Šket Robert; Čugalj Kern Barbara; Jenko Bizjan Barbara; Šmigoc Schweiger Darja; Battelino Tadej; Kovač Jernej
Pathogenesis of type 1 diabetes
2022 ►
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Čugalj Kern Barbara; Trebušak Podkrajšek Katarina; Kovač Jernej; Šket Robert; Jenko Bizjan Barbara; Tesovnik Tine; Debeljak Maruša; Battelino Tadej; Bratina Nataša
The role of epigenetic modifications in late complications in type 1 diabetes
2022 ►
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Tomic Maja; Vrtačnik-Bokal Eda; Štimpfel Martin
Non-invasive preimplantation genetic testing for aneuploidy and the mystery of genetic material
2022 ►
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Videtič Paska Alja; Alič Urban; Zupanc Tomaž; Kouter Katarina
Suicide and changes in expression of neuronal mirna predicted by an algorithm search through miRNA databases
2022 ►
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Henigman Urška; Roškar Saška; Videtič Paska Alja
Samomor je veliko več kot individualno dejanje
2022 ►
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Črepinšek Klementina; Marinšek Gašper; Kavčič Marko; Prelog Tomaž; Kitanovski Lidija; Jazbec Janez; Debeljak Maruša
Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia
2022 ►
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Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
Targeted sequencing approach
2022 ►
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Edgar Laurienne; Akbar Naveed; Braithwaite Adam T.; Krausgruber Thomas; Gallart-Ayala Héctor; Bailey Jade; Corbin Alastair L.; Khoyratty Tariq E.; Chai Joshua T.; Žiberna Klemen
Hyperglycemia induces trained immunity in macrophages and their precursors and promotes atherosclerosis
2021 ►
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Redenšek Sara; Trošt Maja; Dolžan Vita
Genetic variability in oxidative stress pathways influences the occurrence of adverse events of dopaminergic treatment in Parkinson's disease
2018 ►
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Gruendler Reinhard; Hippe Berit; Šendula-Jengić Vesna; Peterlin Borut; Haslberger Alexander G.
Nutraceutical approaches of autophagy and neuroinflammation in Alzheimer’s disease
2021 ►
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Tsermpini Evangelia Erini; Redenšek Sara; Dolžan Vita
Genetic factors associated with tardive dyskinesia
2022 ►
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Mullins Niamh; Forstner Andreas J; O'Connell Kevin S; Coombes Brandon; Tsermpini Evangelia Erini
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
2021 ►
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Gašperšič Jernej; Dolžan Vita
Viral and host genetic and epigenetic biomarkers related to SARS-CoV-2 cell entry, infection rate, and disease severity
2022 ►
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Marinšek Gašper; Črepinšek Klementina; Debeljak Maruša
Molekularno-genetska diagnostika akutne limfoblastne levkemije pri otrocih
[Genetic diagnostics of acute lymphoblastic leukemia in children]
2021 ►
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Prašnikar Erika; Kunej Tanja; Gorenjak Mario; Potočnik Uroš; Kovačič Borut; Knez Jure
Transcriptomics of receptive endometrium in women with sonographic features of adenomyosis
2022 ►
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Kouter Katarina; Videtič Paska Alja
Med geni in okoljem ‐ epigenetika samomorilnosti
2021 ►
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Ropret Sandra; Kouter Katarina; Zupanc Tomaž; Videtič Paska Alja
BDNF methylation and mRNA expression in brain and blood of completed suicides in Slovenia
2021 ►
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Kouter Katarina; Videtič Paska Alja
Epigenetika samomorilnega vedenja- med okoljem in geni
2021 ►
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Videtič Paska Alja
Problematika samomora na Slovenskem in sodnomedicinski vidiki
2021 ►
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Šelb Julij; Rijavec Matija; Korošec Peter
Genetika v pulmologiji
[Genetics in pulmology]
2021 ►
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Gašperšič Jernej; Kristan Aleša; Kunej Tanja; Preložnik-Zupan Irena; Debeljak Nataša
Erythrocytosis
2021 ►
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Nature genetics
1992 ►
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Redenšek Sara
Farmakogenetika zdravljenja Parkinsonove bolezni
2017 ►
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Kristan Aleša; Debeljak Nataša; Kunej Tanja
Integration and visualization of regulatory elements and variations of the EPAS1 gene in human
2021 ►
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Pečovnik Aleksandra; Večerić-Haler Željka; Wechtersbach Karmen; Pleško Jerica; Frelih Maja; Lindič Jelka; Kojc Nika
Histomorphological and clinical characteristics of patients with thin glomerular basement membrane nephropathy
2021 ►
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D'Elios Mario Milco; Baldari Cosima Tatiana; Annunziato Francesco; Lippi Donatella
Cellular primary immunodeficiencies
2021 ►
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Hernandez-Pacheco Natalia; Vijverberg Susanne J; Herrera-Luis Esther; Li Jiang; Sio Yang Yie; Granell Raquel; Corrales Almudena; Maroteau Cyrielle; Lethem Ryan; Perez-Garcia Javier; Repnik Katja; Gorenjak Mario; Berce Vojko; Potočnik Uroš
Genome-wide association study of asthma exacerbations despite inhaled corticosteroids use
2021 ►
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Erdani-Kreft Mateja; Erman Andreja; Hudoklin Samo; Resnik Nataša; Romih Rok; Zupančič Daša; Veranič Peter; Glavač Damjan
Celična biologija in genetika v medicini
2021 ►
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Vallejo-Vaz Antonio J.; Stevens Christophe A. T.; Lyons Alexander R.M.; Dharmayat Kanika I.; Freiberger Tomas; Hovingh G. Kees; Mata Pedro; Raal Frederick J.; Santos Raul D.; Soran Handrean; Grošelj Urh; Battelino Tadej; Kovač Jernej; Mlinarič Matej; Šuštar Urša; Trebušak Podkrajšek Katarina; Fras Zlatko; Jug Borut; Cevc Matija
Global perspective of familial hypercholesterolaemia
2021 ►
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Vogrinc David; Goričar Katja; Kunej Tanja; Dolžan Vita
Systematic search for novel circulating biomarkers associated with extracellular vesicles in Alzheimerʹs disease
2021 ►
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Stacey Andrew; Bowman Richard; Foster Allen; Kivela Tero; Munier Francis L.; Cassoux Nathalie; Fabian Ido Didi; Al Harby Lamis; Alarcón Portabella Silvia; Alia Donjeta B; Stirn-Kranjc Branka; Tekavčič Pompe Manca
Incidence of retinoblastoma has increased: results from 40 European countries
2021 ►
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Germenis Anastasios E.; Rijavec Matija; Lopes Veronez Camila
Leveraging genetics for hereditary angioedema
2021 ►
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ESHG 2021 - virtual conference
2021 ►
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Krsteski Jovan; Gorenjak Mario; But Igor; Pakiž Maja; Potočnik Uroš
Dysregulation of synaptic signaling genes is involved in biology of uterine leiomyoma
2021 ►
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Lunder Mojca; Janić Miodrag; Šabovič Mišo
Treating arterial ageing in patients with diabetes
2021 ►
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Škrlec Ivana; Milić Jakov; Heffer Marija; Wagner Jasenka; Peterlin Borut
Circadian clock genes and circadian phenotypes in patients with myocardial infarction
2019 ►
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Smolović B.; Muhović D.; Hodžić Alenka; Bergant Gaber; Peterlin Borut
The role of next generation sequencing in the differential diagnosis of Caroli's syndrome
2018 ►
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Gašparović Krpina Milena; Barišić Anita; Peterlin Ana Marija; Tul Nataša; Ostojić Saša; Peterlin Borut; Pereza Nina
Vitamin D receptor polymorphisms in spontaneous preterm birth
2020 ►
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Illini Oliver; Hochmair Maximilian J; Fabikan Hannah; Weinlinger Christoph; Tufman Amanda; Swalduz Aurélie; Lamberg Kristina; Hashemi Sayed M. S.; Huemer Florian; Vikström Anders; Mohorčič Katja
Selpercatinib in RET fusion-positive non-small-cell lung cancer (SIREN)
2021 ►
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Barišić Anita; Kolak Maja; Peterlin Ana Marija; Tul Nataša; Gašparović Krpina Milena; Ostojić Saša; Peterlin Borut; Pereza Nina
DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status
2020 ►
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Bergant Gaber; Maver Aleš; Peterlin Borut
Whole-genome sequencing in diagnostics of selected Slovenian undiagnosed patients with rare disorders
2021 ►
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Petersen Ann-Kristin; Zeilinger Sonja; Kastenmüller Gabi; Römisch-Margl Werner; Brugger Markus; Peters Annette; Meisinger Christine; Strauch Konstantin; Hengstenberg Christian; Adamski Jerzy
Epigenetics meets metabolomics
2014 ►
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Institute for Biostatistics and Medical Informatics