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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.
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Efimova IY, Zinchenko RA, Marakhonov AV, Balinova NV, Mikhalchuk KA, Shchagina OA, Polyakov AV, Mudaeva DA, Saydaeva DH, Matulevich SA, Parshintseva PD, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Jamschikova AV, Nurgalieva LR, Saifullina EV, Nevmerzhitskaya KS, Belyaeva TI, Romanova OS, Voronin SV, Kutsev SI.
Efimova IY, et al. Among authors: gabisova yv.
Pediatr Neurol. 2024 Apr 24;156:147-154. doi: 10.1016/j.pediatrneurol.2024.04.015. Online ahead of print.
Pediatr Neurol. 2024.
PMID: 38781723
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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: gabisova yv.
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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