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Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Int J Mol Sci. 2022 Sep 13;23(18):10606. doi: 10.3390/ijms231810606.
Int J Mol Sci. 2022.
PMID: 36142510
Free PMC article.
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S.
Murtazina A, et al.
Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991.
Genes (Basel). 2022.
PMID: 36360228
Free PMC article.
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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
Miroshnikova VV, Vasiluev PA, Linkova SV, Soloviov VM, Ivanova ON, Tolmacheva ER, Udalova VY, Baranova PV, Aleksandrova DY, Strokova TV, Miklashevich IM, Izumchenko AD, Dracheva KV, Grunina MN, Smirnova NN, Kuchina AS, Zakharova EY, Pchelina SN.
Miroshnikova VV, et al. Among authors: udalova vy.
J Pers Med. 2023 Oct 14;13(10):1492. doi: 10.3390/jpm13101492.
J Pers Med. 2023.
PMID: 37888103
Free PMC article.
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