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Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Among authors: soltysova a. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
Alkaptonuria in Russia.
Soltysova A, Kuzin A, Samarkina E, Zatkova A. Soltysova A, et al. Eur J Hum Genet. 2022 Feb;30(2):237-242. doi: 10.1038/s41431-021-00955-1. Epub 2021 Sep 10. Eur J Hum Genet. 2022. PMID: 34504318 Free PMC article.
KIT Expression Is Regulated by DNA Methylation in Uveal Melanoma Tumors.
Horvathova Kajabova V, Soltysova A, Demkova L, Plesnikova P, Lyskova D, Furdova A, Babal P, Smolkova B. Horvathova Kajabova V, et al. Among authors: soltysova a. Int J Mol Sci. 2021 Oct 4;22(19):10748. doi: 10.3390/ijms221910748. Int J Mol Sci. 2021. PMID: 34639089 Free PMC article.
39 results