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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.
Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127.
Int J Mol Sci. 2022.
PMID: 36292982
Free PMC article.
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A.
Makretskaya N, et al.
Front Endocrinol (Lausanne). 2023 May 16;14:1146768. doi: 10.3389/fendo.2023.1146768. eCollection 2023.
Front Endocrinol (Lausanne). 2023.
PMID: 37274334
Free PMC article.
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Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Sharova M, Markova T, Sumina M, Petukhova M, Bulakh M, Ryzhkova O, Nagornova T, Ionova S, Marakhonov A, Dadali E, Kutsev S.
Sharova M, et al.
Genes (Basel). 2023 Jul 28;14(8):1553. doi: 10.3390/genes14081553.
Genes (Basel). 2023.
PMID: 37628605
Free PMC article.
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