Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

110 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: polyakov av. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV. Bliznetz EA, et al. Among authors: polyakov av. J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13. J Hum Genet. 2017. PMID: 28405014 Free PMC article.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Zinchenko RA, Makaov AK, Marakhonov AV, Galkina VA, Kadyshev VV, El'chinova GI, Dadali EL, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Polyakov AV, Alexandrova OY, Kutsev SI, Ginter EK. Zinchenko RA, et al. Among authors: polyakov av. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, Zinchenko RA. Tebieva IS, et al. Among authors: polyakov av. Int J Mol Sci. 2024 Apr 23;25(9):4598. doi: 10.3390/ijms25094598. Int J Mol Sci. 2024. PMID: 38731816 Free PMC article.
Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.
Zinchenko RA, Kadyshev VV, El'chinova GI, Marakhonov AV, Galkina VA, Dadali EL, Khlebnikova OV, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Tanas AS, Strelnikov VV, Polyakov AV, Ginter EK. Zinchenko RA, et al. Among authors: polyakov av. Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):34-42. eCollection 2018. Int J Mol Epidemiol Genet. 2018. PMID: 30245780 Free PMC article.
110 results