biomedicina slovenica

"Fenotip" : 164

Lidstone Sarah C.; Costa-Parke Michael; Robinson Emily J.; Ercoli Tommaso; Stone Jon; Benussi Luisa; Kojović Maja
Functional movement disorder gender, age and phenotype study
2022 ►
Burgmaier Kathrin; Brinker Leonie; Erger Florian; Beck Bodo; Benz Marcus; Bergmann Carsten; Boyer Olivia; Collard Laure; Dafinger Claudia; Fila Marc; Rus Rina
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 ►
Božič Borut
Vloga proteomike v bolniku prilagojeni laboratorijski medicini
[The role of proteomics in personalized laboratory medicine]
2022 ►
Zupanič-Pajnič Irena; Zupanc Tomaž; Leskovar Tamara; Črešnar Matija; Fattorini Paolo
Eye and hair color prediction of ancient and second world war skeletal remains using a forensic PCR-MPS approach
2022 ►
Fležar Matjaž
Lung function tests to be used in severe asthma
2022 ►
Rijavec Matija; Korošec Peter
Endotypes and immune cells in severe asthma
2022 ►
Škrgat Sabina; Košnik Mitja; Popović-Grle Sanja
Severe asthma - basic and clinical views
2022 ►
Vogelnik Katarina; Koritnik Blaž; Leonardis Lea; Dolenc-Grošelj Leja; Saifee Tabish A.; Zidar Janez; Kojović Maja
Shaky hands are a part of motor neuron disease phenotype
2022 ►
Spyroglou Ariadni; Handgriff Laura; Müller Lisa; Schwarzlmüller Paul; Parasiliti-Caprino Mirko Parasiliti-Caprino; Fuss Carmina Teresa; Remde Hana; Bonomi Marco; Vrčkovnik Rok; Kocjan Tomaž
The metabolic phenotype of patients with primary aldosteronism
2022 ►
Ajiri Ramona; Burgmaier Kathrin; Akinci Nurver; Broekaert Ilse; Buescher Anja Katrin; Dursun Ismail; Duzova Ali; Eid Loai Akram; Fila Marc; Gessner Michaela; Rus Rina
Phenotypic variability in siblings with autosomal recessive polycystic kidney disease
2022 ►
Schofield Paul N.; Gkoutos Georgios V.; Gruenberger Michael; Sundberg John P.; Hancock John M.
Phenotype ontologies for mouse and man
2010 ►
Hancock John M.; Hazelwood Lee D; Ainali Chrysanthi; Simon M.; Goldsworthy M.; Milton R.; Cox D.; Duchen M.
From gene to phenotype
2010 ►
Gates Hilary; Mallon Ann-Marie; Brown Steve D. M.; Hancock John M.
High-throughput mouse phenotyping
2011 ►
Swertz Morris A.; Van der Velde K Joeri; Tesson Bruno M; Scheltema Richard A; Arends Danny; Vera Gonzalo; Alberts Rudi; Dijkstra Martijn; Hancock John M.
XGAP
2010 ►
Gkoutos Georgios V.; Mungall Chris; Dölken Sandra; Ashburner Michael; Lewis Suzanna; Hancock John M.; Schofield Paul N.; Köhler Sebastian; Robinson Peter N.
Entity/quality-based logical definitions for the human skeletal phenome using PATO
2009 ►
Morgan Hugh; Beck Tim; Blake Andrew; Gates Hilary; Adams Niels C.; Debouzy Guillaume; Leblanc Sophie; Lengger Christoph; Maier Holger; Hancock John M.
EuroPhenome
2010 ►
Blake Andrew; Pickford Karen; Greenaway Simon; Thomas Steve; Pickard Amanda; Williamson Christine M.; Adams Niels C.; Walling Alison; Beck Tim; Hancock John M.
MouseBook
2010 ►
Hancock John M.; Adams Niels C.; Aidinis Vassilis; Blake Andrew
Integration of mouse phenome data resources
2007 ►
Hancock John M.; Gates Hilary
The informatics of high-throughput mouse phenotyping
2011 ►
Hancock John M.
Mouse genetic and phenotypic resources as tools for human genetics
2013 ►
Brown Steve D. M.; Wurst Wolfgang; Kühn Ralf; Hancock John M.
The functional annotation of mammalian genomes
2009 ►
Hancock John M.; Mallon Ann-Marie; Beck Tim; Gkoutos Georgios V.; Mungall Chris; Schofield Paul N.
Mouse, man, and meaning
2009 ►
Beck Tim; Morgan Hugh; Blake Andrew; Wells Sara; Hancock John M.; Mallon Ann-Marie
Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data
2009 ►
Mallon Ann-Marie; Blake Andrew; Hancock John M.
EuroPhenome and EMPReSS
2008 ►
Brown Steve D. M.; Hancock John M.; Gates Hilary
Understanding mammalian genetic systems
2006 ►
Reuveni Eli; Carola Valeria; Al Banchaabouchi Mumna; Rosenthal Nadia; Hancock John M.; Gross Cornelius
Phenostat
2007 ►
Hancock John M.; Mallon Ann-Marie
Phenobabelomics - mouse phenotype data resources
2007 ►
Green Eain C. J.; Gkoutos Georgios V.; Lad Heena V.; Blake Andrew; Weekes Joseph; Hancock John M.
EMPReSS
2005 ►
Gkoutos Georgios V.; Green Eain C. J.; Greenaway Simon; Blake Andrew; Mallon Ann-Marie; Hancock John M.
CRAVE
2005 ►
Gkoutos Georgios V.; Mallon Ann-Marie; Blake A.; Greenaway Simon; Hancock John M.; Davidson D.
Ontologies for the description of mouse phenotypes
2004 ►
Gkoutos Georgios V.; Green E. C. J.; Mallon Ann-Marie; Hancock John M.
Building mouse phenotype ontologies
2004 ►
Green David J.; Lenassi Eva; Manning Cerys S.; McGaughey David; Sharma Vinod; Black Graeme C. M.; Ellingford Jamie M; Sergouniotis Panagiotis I.
North Carolina macular dystrophy
2021 ►
Nijman Ruud; Oostenbrink Rianne; Moll Henriette A.; Casals-Pascual Climent; Von Both Ulrich; Cunnington Aubrey; De Tisham; Eleftheriou Irini; Emonts Marieke; Fink Colin; Pokorn Marko
A novel framework for phenotyping children with suspected or confirmed infection for future biomarker studies
2021 ►
Jensterle Sever Mojca; Ležaič Luka; Jeruc Jera; Janež Andrej
A rare metanephrine-predominant secretion phenotype of paraganglioma challenged an interpretation of imaging localization
2021 ►
Kiraly Peter; Zupan Andrej; Matjašič Alenka; Jaki Mekjavić Polona
Associations of single-nucleotide polymorphisms in Slovenian patients with acute central serous chorioretinopathy
2022 ►
Korecka Joanna A.; Van Kesteren Ronald E.; Blaas Eva; Spitzer Sonia O.; Kamstra Jorke H.; Smit August B.; Swaab Dick Frans; Verhaagen Joost; Bossers Koen
Phenotypic characterization of retinoic acid differentiated SH-SY5Y cells by transcriptional profiling
2013 ►
Kandus Naomi; Osredkar Damjan
Sodobne terapije spreminjajo fenotipe bolezni
2021 ►
Janžič Larisa; Kopitar Andreja Nataša; Pavlin Mojca; Repas Jernej; Ihan Alojz
Different isolates of Group B Streptococcus induce different macrophage phenotype
2021 ►
Banić Ivana; Lovrić Mario; Cuder Gerald; Kern Roman; Rijavec Matija; Korošec Peter; Kljajić-Turkalj Mirjana
Treatment outcome clustering patterns correspond to discrete asthma phenotypes in children
2021 ►
Klun Tara; Resnik Robida Karmen; Čižman Štaba Urša
Nevropsihološki status in primerjava kognitivnega profila pri pacientih z recidivno-remitentno ter sekundarno napredujočo multiplo sklerozo
[Neuropsychological status and comparison of cognitive profiles in patients with relapsing-remitting and secondary progressive multiple sclerosis]
2021 ►
Jazbar Janja; Pišek Špela; Locatelli Igor; Kos Mitja
Prevalence and incidence of frailty among community-dwelling older adults in Slovenia
[Razširjenost in pojavnost krhkosti med starejšimi odraslimi v Sloveniji]
2021 ►
Fuchs Helmut; Gailus-Durner Valérie; Adler Thure; Aguilar-Pimentel Juan Antonio; Becker Lore; Calzada-Wack Julia; Da Silva-Buttkus Patricia; Neff Frauke; Götz Alexander; Adamski Jerzy
Mouse phenotyping
2011 ►
Siegert Sabine; Yu Zhonghao; Wang-Sattler Rui; Illig Thomas; Adamski Jerzy; Hampe Jochen; Nikolaus Susanna; Schreiber Stefan; Krawczak Michael; Nothnagel Michael
Diagnosing fatty liver disease
2013 ►
Ruml Stojanovic Jelena; Miletić Aleksandra; Peterlin Borut; Maver Aleš; Mijovic Marija; Borlja Nikola; Dimitrijević Brankica; Soldatović Ivan; Čuturilo Goran
Diagnostic and clinical utility of clinical exome sequencing in children with moderate and severe global developmental delay / intellectual disability
2020 ►
Urlep Žiga; Rozman Damjana; Plemenitaš Ana; Majdič Gregor; Trebušak Podkrajšek Katarina
Vpliv pogojnega izbitja gena Cyp51 v jetrih na razvoj miši in ovrednotenje bolezenskih fenotipov
[The role of the Cyp51 liver conditional knockout on mouse development and characterization of disease phenotypes]
2017 ►
Albrecht Eva; Waldenberger Melanie; Krumsiek Jan; Evans Anne M.; Jeratsch Ulli; Breier Michaela; Adamski Jerzy; Koenig Wolfgang; Zeilinger Sonja; Fuchs Christiane
Metabolite profiling reveals new insights into the regulation of serum urate in humans
2014 ►
Jourdan Carolin; Linseisen Jakob; Meisinger Christa; Petersen Ann-Kristin; Gieger Christian; Rawal Rajesh; Illig Thomas; Heier Margit; Peters Annette; Adamski Jerzy
Associations between thyroid hormones and serum metabolite profiles in an euthyroid population
2014 ►
Yousri Noha A.; Kastenmüller Gabi; Gieger Christian; Shin So-Youn; Erte Idil; Menni Cristina; Peters Annette; Meisinger Christa; Mohney Robert P.; Adamski Jerzy
Long term conservation of human metabolic phenotypes and link to heritability
2014 ►
Fuchs Helmut; Sabrautzki Sibylle; Przemeck Gerhard K. H.; Leuchtenberger Stefanie; Lorenz-Depiereux Bettina; Becker Lore; Rathkolb Birgit; Horsch Marion; Garrett Lillian; Adamski Jerzy
The first Scube3 mutant mouse line with pleiotropic phenotypic alterations
2016 ►
Merz Benedikt; Nöthlings Ute; Wahl Simone; Haftenberger Marjolein; Schienkiewitz Anja; Adamski Jerzy; Suhre Karsten; Wang-Sattler Rui; Grallert Harald; Thorand Barbara
Specific metabolic markers are associated with future waist - gaining phenotype in women
2016 ►
Seeburg Peter H.; Adler Thure; Aguilar-Pimentel Juan Antonio; Becker Lore; Calzada-Wack Julia; Garrett Lilian; Götz Alexander; Rozman Jan; Adamski Jerzy
Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice
2011 ►
Espinosa Octavio; Hancock John M.
A gene-phenotype network for the laboratory mouse and its implications for systematic phenotyping
2011 ►
Simon Michelle M; Greenaway Simon; White Jacqueline K; Fuchs Helmut; Gailus-Durner Valérie; Wells Sara; Sorg Tania; Wong Kim; Bedu Elodie; Hancock John M.
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains
2013 ►
Hancock John M.
Commentary on Shimoyama et al. (2012): three ontologiesto define phenotype measurement data
2014 ►
Hrabě de Angelis Martin; Nicholson George; Selloum Mohammed; White Jacqui; Morgan Hugh; Ramirez-Solis Ramiro; Sorg Tania; Wells Sara; Fuchs Helmut; Hancock John M.
Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics
2015 ►
Eckes Annemarie H.; Gubała Tomasz; Nowakowski Piotr; Szymczyszyn Tomasz; Irwin Judith A.; Horro Carlos; Hancock John M.
Introducing the Brassica Information Portal
2017 ►
Sergouniotis Panagiotis I.; Maxime Emmanuel; Leroux Dorothée; Olry Annie; Thompson Rachel; Rath Ana; Robinson Peter N.; Dollfus Hélène
An ontological foundation for ocular phenotypes and rare eye diseases
2019 ►
Lountzi Dimitra; Henzel Kristin; Jazbec Katerina; Bano Daniele; Krauss Sybille; Rožman Primož; Ehninger Dan
Effects of heterochronic, non-myeloablative bone marrow transplantation on age-related behavioural changes in mice
2020 ►
Sodja Eva; Toplak Nataša; Koren Simon; Kovač Minka; Truden Sara; Ilievska Poposka Biljana; Žolnir-Dovč Marija
Next-generation sequencing of drug resistant Mycobacterium tuberculosis clinical isolates in low-incidence countries
2019 ►
Dermota Urška; Janežič Sandra; Rupnik Maja; Grmek-Košnik Irena
Spremljanje kliničnih izolatov proti meticilinu odporne bakterije Staphylococcus aureus domačega okolja v letih med 2014 in 2018
[Surveillance of clinical isolates community-associated methicillin-resistant Staphylococcus aureus between years 2014 and 2018]
2020 ►
Retamozo Soledad; Acar-Denizli Nihan; Fai Ng Wan; Horváth Ildiko Fanny; Rasmussen Astrid; Seror Raphaèle; Li Xiaomei; Baldini Chiara; Gottenberg Jacques-Eric; Praprotnik Sonja
How the age at diagnosis modifies the phenotype of primary Sjögren syndrome
2019 ►
Retamozo Soledad; Acar-Denizli Nihan; Fai Ng Wan; Horváth Ildiko Fanny; Rasmussen Astrid; Seror Raphaèle; Li Xiaomei; Baldini Chiara; Gottenberg Jacques-Eric; Praprotnik Sonja
Phenotype of biopsy-proven patients with primary Sjögren syndrome lacking Ro autoantibodies
2019 ►
Peruzzi Adelaide; Girotto Giorgia; Battelino Saba; Maver Aleš
Next generation sequencing for the molecular characterization of syndromic cases with hearing loss phenotype
[Tecnologie di sequenziamento di nuova generazione per la caratterizzazione molecolare di casi sindromici con fenotipo uditivo]
2018 ►
Podgoršek Daša; Ružić-Sabljić Eva; Cerar Kišek Tjaša; Keše Darja
Fenotipska in genotipska opredelitev bakterije iz rodu Leptospira in ocena izbranih metod za mikrobiološko diagnostiko leptospiroze
[Phenotypic and genotypic identification of Leptospira spp. and evaluation of microbiological methods for diagnosis of infection]
2017 ►
Köhler Sebastian; Carmody Leigh; Vasilevsky Nicole; Jacobsen Julius O.B.; Danis Daniel; Gourdine Jean-Philippe; Gargano Michael; Harris Nomi L.; Matentzoglu Nicolas; Sergouniotis Panagiotis I.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
2019 ►
Halford Stephanie; Liew Gerald; Mackay Donna S.; Sergouniotis Panagiotis I.; Holt G. Richard; Broadgate Suzanne; Volpi Emanuela; Ocaka Louise; Robson Anthony G.; Holder Graham
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
2014 ►
Chandra Aman; Arno Gavin; Williamson Kathleen; Sergouniotis Panagiotis I.; Preising Markus N.; Charteris David G.; Thompson Dorothy A.; Holder Graham; Borman Arundhati Dev; Davagnanam Indran
Expansion of ocular phenotypic features associated with mutations in ADAMTS18
2014 ►
Morarji Jiten; Gillespie Rachel L.; Sergouniotis Panagiotis I.; Horvath Andrea Rita; Black Graeme C. M.
An unusual retinal phenotype associated with a mutation in sterol carrier protein SCP2
2017 ►
Taylor Rachel L.; Parry Neil R.A.; Barton Stephanie J.; Campbell Christopher; Delaney Claire M.; Ellingford Jamie M; Hall Georgina; Hardcastle Claire; Morarji Jiten; Sergouniotis Panagiotis I.
Panel-based clinical genetic testing in 85 children with inherited retinal disease
2017 ►
Sergouniotis Panagiotis I.; Sohn Elliott H.; Li Zheng; McBain Vikki A.; Wright Genevieve A.; Moore Anthony T.; Robson Anthony G.; Holder Graham; Webster Andrew R.
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus)
2011 ►
Jarc-Vidmar Martina; Fakin Ana; Glavač Damjan; Šuštar Maja; Jaki Mekjavić Polona; Hawlina Marko
Zanimiv fenotip in elektrofiziološki rezultati slovenske družine z Bestovo vitelliformno distrofijo s potrjeno pAla243Val BEST1 mutacijo
[Interesting phenotype and electrophysiological finding in Slovene family with Best vitelliform dystrophy with the pAla243Val BEST1 mutation]
2018 ►
Pernat Drobež Cvetka; Ferkolj Ivan; Potočnik Uroš; Repnik Katja
Crohn's disease candidate gene alleles predict time to progression from inflammatory B1 to stricturing B2, or penetrating B3 phenotype
2018 ►
Retamozo Soledad; Acar-Denizli Nihan; Ng Wan-Fai; Zeher Margit; Rasmussen Astrid; Mandl Thomas; Seror Raphaèle; Li Xiaomei; Baldini Chiara; Praprotnik Sonja
How immunological profile drives clinical phenotype of primary Sjögren's syndrome at diagnosis
2018 ►
Brito-Zeron Pilar; Acar-Denizli Nihan; Zeher Margit; Rasmussen Astrid; Mandl Thomas; Seror Raphaèle; Baldini Chiara; Gottenberg Jacques-Eric; Danda Debashish; Praprotnik Sonja
How immunological profile drives clinical phenotype of primary Sjögren's syndrome at diagnosis
2018 ►
Kuret Tadeja; Lakota Katja; Žigon Polona; Ogrič Manca; Sodin-Šemrl Snežna; Čučnik Saša; Tomšič Matija; Hočevar Alojzija
A longitudinal study of neutrophil phenotype changes in giant cell arteritis
2018 ►
Požek Kity; Novak Katja; Karas Kuželički Nataša
Dedna hemokromatoza
[Hereditary hemocromatosis]
2017 ►
Potočar Urška; Jeras Matjaž; Erdani-Kreft Mateja; Horvat Simon; Antolič Vane; Knežević Miomir
Preučevanje vpliva izbranih parametrov, značilnih za jedro medvretenčne ploščice, na fenotip celičnih virov s hondrogenim potencialom
[The effects of selected intervertebral disc specific microenvironmental conditions on phenotype of cells with chondrogenic potential]
2017 ►
Žigon Polona; Mrak Poljšak Katjuša; Lakota Katja; Terčelj Matic; Čučnik Saša; Tomšič Matija; Sodin-Šemrl Snežna
Metabolic fingerprints of human primary endothelial and fibroblast cells
2016 ►
Klopčič Ulrika; Kloboves-Prevodnik Veronika
Opredelitev nodalnih drobnoceličnih limfomov B v citopatologiji
2016 ►
Trampuš-Bakija Alenka; Jazbec Janez; Preložnik-Zupan Irena
Opredelitev mutacij in ovrednotenje uporabnosti testov za oceno hemostatskega potenciala pri bolnikih z lahko hemofilijo A
2016 ►
Brožič Andreja; Kloboves-Prevodnik Veronika
Klonalnost in antigenske lastnosti reaktivnih in neoplastičnih limfocitnih proliferacij
2016 ►
Kokalj-Vokač Nadja; Zagorac Andreja; Erjavec Škerget Alenka; Marčun-Varda Nataša; Krajnc Olga; Zagradišnik Boris
Two cases with appearently the same subtelomeric unbalanced rearrangements and different phenotypes
2006 ►
Meznarič Marija; Leonardis Lea
Phenotypec of mitochondrial diseases in the adult Slovenian patients
2016 ►
Rijavec Matija; Karandža-Lapić Ljerka; Zidarn Mihaela; Šilar Mira; Korošec Peter; Cikojević Draško; Mijanović Radomir; Bonači-Nikolić Branka; Košnik Mitja
High heterogeneity of mutations in the SERPING1 gene and genotype-phenotype correlation in patients with hereditary angioedema due to C1 inhibitor deficiency from Croatia, Serbia and Slovenia
2015 ►
Kirbiš Mojca; Koritnik Blaž; Leonardis Lea; Dolenc-Grošelj Leja; Klinar Polonca; Ristič Kovačič Stanislava; Zidar Janez
Amyotrophic lateral sclerosis in Slovenia
2015 ►
Berce Vojko; Potočnik Uroš
Identifikacija nekaterih kandidatnih genov za astmo ter povezava teh genov s fenotipom astme in odgovorom na zdravljenje pri otrocih z astmo
2010 ►
Urlep Žužej Darja; Dolinšek Jernej; Mičetić-Turk Dušanka
Pancreatic antibodies are associated with anti-saccharomyces cerevisiae antibodies and more complicated disease phenotype in paediatric Crohn's disease
2011 ►
Simčič Mojca; Smetko Anamarija; Sölkner Johann; Seichter Doris; Gorjanc Gregor; Kompan Drago; Medjugorac Ivica
Recovery of native genetic background in admixed populations using haplotypes, phenotypes, and pedigree information - using Cika cattle as a case breed
2015 ►
Gabbasov Zufar; Sabo Jan; Petrovič Danijel; Martell-Claros Nieves; Zagatina Angela; Mrdovic Igor; Ciccocioppo Rachele; Cangemi Giuseppina Cristina; Klimas Jan; Kruzliak Peter
Impact of platelet phenotype on myocardial infarction
2015 ►
Meznarič Marija; Leonardis Lea; Zidar Janez
Frequency of sIBM in the Slovenian national biopsy collection
2014 ►
Soklič Tanja; Boršoš Imre
Imunofenotipi kroničnega rinosinuzitisa
[Chronic rhinosinusitis immunophenotypes]
2012 ►
Geršak Ksenija
Kako ohraniti ženski fenotip
[How to maintain the female phenotype]
2012 ►
Čadež Neža; Zupan Jure; Kovač Jasna; Jakovac Miha; Draškovič Petra; Smole Možina Sonja; Raspor Peter
Fenotipizacija industrijskih kontaminantov in proizvodnih sevov z mikromrežami sistema Omnilog
2014 ►
Keše Darja; Kogoj Rok; Korva Miša
Phenotypic and genotypic characterisation of Legionella pneumophila clinical isolates in Slovenia
2014 ►
Cvetko Andreja; Bizjak Bojana
Razširjenost Rh fenotipa v severovzhodni Sloveniji
2012 ►
Reberšek Katarina; Podgornik Helena
Pomen citogenetskih sprememb in imunofenotipa pri odzivu plazmocitomskih celic na arzenov trioksid
2014 ►
Grošelj Urh; Žerjav-Tanšek Mojca; Trebušak Podkrajšek Katarina; Battelino Tadej
Genetske in klinične značilnosti bolnikov s fenilketonurijo v Sloveniji
[Genetic and clinical characteristics of patients with phenylketonuria in Slovenia]
2013 ►
Fijan Sabina; Šostar-Turk Sonja; Rozman Urška
Comparison of methods for detection of four common nosocomial pathogens on hospital textiles
[Primerjava metod za detekcijo štirih pogostih povzročiteljev bolnišničnih okužb na bolnišničnih tekstilijah]
2013 ►
Hrašovec Sonja; Ravnik-Glavač Metka
Diagnostična opredelitev genetskih in epigenetskih sprememb pri karcinomu debelega črevesa in danke
2013 ►
Balantič Mateja; Rijavec Matija; Fležar Matjaž; Camlek Tomaž; Hudoklin Irena; Košnik Mitja; Korošec Peter; Šuškovič Stanislav
#A #polymorphism in ORMDL3 is associated not only with asthma without rhinitis but also with chronic obstructive pulmonary disease
2013 ►

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