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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Int J Mol Sci. 2024 Apr 23;25(9):4598. doi: 10.3390/ijms25094598.
Int J Mol Sci. 2024.
PMID: 38731816
Free PMC article.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI.
Marakhonov AV, et al. Among authors: tebieva is.
J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z.
J Clin Immunol. 2024.
PMID: 38578360
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Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report.
Vasilyeva TA, Marakhonov AV, Tebieva IS, Kadyshev VV, Borovikov AO, Markova ZG, Chukhrova AL, Ginter EK, Kutsev SI, Zinchenko RA.
Vasilyeva TA, et al. Among authors: tebieva is.
Int J Mol Sci. 2023 Feb 24;24(5):4515. doi: 10.3390/ijms24054515.
Int J Mol Sci. 2023.
PMID: 36901946
Free PMC article.
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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA.
Ionova SA, et al. Among authors: tebieva is.
Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127.
Int J Mol Sci. 2022.
PMID: 36292982
Free PMC article.
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