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Nijmegen breakage syndrome.
Kondratenko I, Paschenko O, Polyakov A, Bologov A. Kondratenko I, et al. Among authors: polyakov a. Adv Exp Med Biol. 2007;601:61-7. doi: 10.1007/978-0-387-72005-0_6. Adv Exp Med Biol. 2007. PMID: 17712992 Review.
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: polyakov a. Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837. Genes (Basel). 2021. PMID: 34071719 Free PMC article.
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.
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