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Page 1
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991.
Genes (Basel). 2022.
PMID: 36360228
Free PMC article.
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: chukhrova a.
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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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H.
Polla DL, et al. Among authors: chukhrova al.
Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6.
Genet Med. 2021.
PMID: 33824500
Free PMC article.
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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: chukhrova a.
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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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.
Mikhalchuk K, Shchagina O, Chukhrova A, Zabnenkova V, Chausova P, Ryadninskaya N, Vlodavets D, Kutsev SI, Polyakov A.
Mikhalchuk K, et al. Among authors: chukhrova a.
Int J Neonatal Screen. 2023 May 16;9(2):29. doi: 10.3390/ijns9020029.
Int J Neonatal Screen. 2023.
PMID: 37218894
Free PMC article.
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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.
Chausova P, Murtazina A, Stepanova A, Borovicov A, Kovalskaia V, Ryadninskaya N, Chukhrova A, Ryzhkova O, Poliakov A.
Chausova P, et al. Among authors: chukhrova a.
Int J Mol Sci. 2023 May 7;24(9):8409. doi: 10.3390/ijms24098409.
Int J Mol Sci. 2023.
PMID: 37176116
Free PMC article.
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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father.
Olga S, Natalia S, Igor B, Alena C, Ekaterina Z, Oksana R, Zhanna M, Nadezhda S, Aleksander P.
Olga S, et al. Among authors: alena c.
J Genet. 2020;99:29.
J Genet. 2020.
PMID: 32482918
Free article.
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