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Title SnakeLines: integrated set of computational pipelines for sequencing reads Author Budiš J. Co-authors Krampl W. Bohmer M. Szemes Tomáš Kucharík Marcel Lichvár M. Hekel R. Goga Adrián Sitarčík Jozef Smoľak D. Baláž A. Ďuriš F. Gazdarica Juraj Šoltys Katarína Turňa Ján Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Source document Journal of Integrative Bioinformatics. Vol. 20, no. 3 (2023), art. no. 20220059 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2024 DOI 10.1515/jib-2022-0059 URL URL link File name Access Size Downloaded Type License SnakeLinesintegrated set of computational pipelines for sequencing reads.pdf available 1.9 MB 3 Publisher's version 
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Title Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report Author Pecimonova Martina Co-authors Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Smoľak D. Budiš J. Lichvár M. Krištínová Diana Róžová Ivica Turňa Ján Szemes Tomas Source document Medicine. Vol. 100, no. 22 (2021), art. no. e26136 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 DOI 10.1097/MD.0000000000026136 URL URL link File name Access Size Downloaded Type License Admixed phenotype of NEDD4L associated periventricular nodular heterotopia.pdf available 822.7 KB 3 Publisher's version article
Title The first-level gut microbiome analysis in severe alcoholic hepatitis within the framework of predictive, preventive, and personalized medicine Author Skladaný Ľubomír Co-authors Koller T. Messingerová Lucia 1985- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Bystrianska Natalia Bírošová Lucia Janceková Daniela Vnencaková Janka Šoltys Katarína Kukla Michal Lichvár M. Olejníková Petra Source document EPMA World Congress 2021, September 20th – 23rd , Wrocław (POLAND) : Book of Posters’ Abstracts. P. 58-60. - online : Wroslaw University of Science and Technology, 2021 ; EPMA World Congress 2021 Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2021 article
Title SnakeLines: integrated set of computational pipelines for paired-end sequencing reads Author Krampl W. Co-authors Budiš J. Kucharík Marcel Hekel R. Lichvár M. Smoľak D. Bohmer M. Baláž A. Ďuriš F. Gazdarica Juraj Šoltys Katarína Turňa Ján Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Szemes Tomáš Action European society of human genetics conference ( 52nd : June 15-18, 2019 : Gothenburg, Sweden ) APVV-16-0264. Zvýšenie organoleptickej kvality vína aplikáciou nesacharomycétových koštartérov optimalizovanou na základe analýzy mikroflóry použitím NGS a analýzy arómy : 2017-2021 APVV-15-0232. Využitie sekvenovania novej generácie pre analýzu virómu medicínsky a hospodársky významných organizov : 2016-2019 : BMC Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1695-1695 Category AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2019 article
Title Exome-based bottom-up approach of molecular diagnostics in a clinically ambiguous family with a polystigmatized patient revealed ultra-rare NEDD4L associated periventricular nodular heterotopia Author Pecimonova Martina Co-authors Smoľak D. Budiš J. Lichvár M. Turňa Ján Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Szemes Tomáš Action European society of human genetics conference ( 52nd : June 15-18, 2019 : Gothenburg, Sweden ) Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1453-1454 Category AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2019 article