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The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.
Clin Genet. 2024 May;105(5):573-580. doi: 10.1111/cge.14496. Epub 2024 Feb 8.
Clin Genet. 2024.
PMID: 38332451
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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Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S.
Zinina E, et al. Among authors: bulakh m.
Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710.
Int J Mol Sci. 2022.
PMID: 36361501
Free PMC article.
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[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A].
Rudenskaya GE, Bulakh MV, Milovidova TB, Shchagina OA.
Rudenskaya GE, et al. Among authors: bulakh mv.
Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(11):72-76. doi: 10.17116/jnevro201811811172.
Zh Nevrol Psikhiatr Im S S Korsakova. 2018.
PMID: 30585608
Russian.
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