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Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710.
Int J Mol Sci. 2022.
PMID: 36361501
Free PMC article.
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E.
Murtazina A, et al. Among authors: bulakh m.
Int J Mol Sci. 2023 Dec 21;25(1):129. doi: 10.3390/ijms25010129.
Int J Mol Sci. 2023.
PMID: 38203298
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. Among authors: bulakh m.
Genes (Basel). 2023 Jul 28;14(8):1553. doi: 10.3390/genes14081553.
Genes (Basel). 2023.
PMID: 37628605
Free PMC article.
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The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.
Shatokhina O, Bostanova F, Bulakh M, Beresneva A, Ryzhkova O.
Shatokhina O, et al. Among authors: bulakh m.
Clin Genet. 2024 May;105(5):573-580. doi: 10.1111/cge.14496. Epub 2024 Feb 8.
Clin Genet. 2024.
PMID: 38332451
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