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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 Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on black bone disease in Italy Author Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Radvánszky Ján 1982- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Ascher David Pires Douglas E.V. Blundell T.L. Porfirio Berardino Mannoni Alesandro Santucci Annalisa Milucci Lia Sestini Silvia Biolcati Gianfranco Sorge Fiammetta Aurizi Caterina Aquaron R. Alsbou Mohammed S. Marques Lourenco C. Ramadevi Kanakasabapathi Ranganath Lakshminarayan R. Gallagher James A. Kan Christa van Hall Anthony K. Olsson Birgitta Sireau Nicholas Ayoob Hana Timmis Oliver G. Le Quan Sang Kim - Hanh Genovese Federica Imrich Richard Rovenský Jozef Srinivasaraghavan Rangan Bharadwaj Shruthi K. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Source document European Journal of Human Genetics. Vol. 24, no. 1 (2016), p. 66-72 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 2016 DOI 10.1038/ejhg.2015.60 File name Access Size Downloaded Type License Twelve novel HGD gene variants identified in 99 alkaptonuria patients focus on 'black bone disease' in Italy.pdf Neprístupný/archív 556.2 KB 2 Publisher's version article