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Title Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU Author Ascher David Co-authors Spiga Ottavia Sekelská Martina SAVBIOMED - Biomedicínske centrum SAV Pires Douglas E.V. Bernini Andrea Tiezzi Monica Královičová Jana 1972- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Borovská Ivana 1993- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Olsson Birgitta Galderisi Silvia Cicaloni Vittoria Ranganath Lakshminarayan R. Santucci Annalisa Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Source document European Journal of Human Genetics. Vol. 27, no. 6 (2019), p. 888-902 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 2019 DOI 10.1038/s41431-019-0354-0 File name Access Size Downloaded Type License Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.pdf Neprístupný/archív 2 MB 0 Publisher's version 
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Title A new integrated and interactive tool applicable to inborn errors of metabolism: application to alkaptonuria Author Spiga Ottavia Co-authors Cicaloni Vittoria Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Millucci Lia Bernardini Giulia Bernini Andrea Marzocchi Barbara Bianchini Monica Zugarini Andrea Rossi Alberto Zazzeri Matteo Trezza Alfonso Frediani Bruno Ranganath Lakshminarayan R. Braconi Daniela Santucci Annalisa Source document Computers in Biology and Medicine. Vol. 103 (2018), p. 1-7 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 2018 DOI 10.1016/j.compbiomed.2018.10.002 URL URL link article
Title ApreciseKUre: an approach of precision medicine in a rare disease Author Spiga Ottavia Co-authors Cicaloni Vittoria Bernini Andrea Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Santucci Annalisa Source document BMC Medical Informatics and Decision Making. Vol. 17, no. 1 (2017) art. no. 42 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 2017 DOI 10.1186/s12911-017-0438-0 File name Access Size Downloaded Type License ApreciseKUre an approach of precision medicine in a rare disease..pdf Neprístupný/archív 778.5 KB 2 Publisher's version article