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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA. Bobreshova AM, et al. Among authors: filatova ay. Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260. Int J Mol Sci. 2024. PMID: 39457042 Free PMC article.
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva E, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Efremova A, Skoblov M, Bukharova T, Sherman V, Voronkova A, Zhekaite E, Krasovskiy S, Amelina E, Petrova N, Polyakov A, Adyan T, Starinova M, Krasnova M, Vasilyev A, Makhnach O, Zinchenko R, Kutsev S, Gokdemir Y, Karadag B, Goldshtein D. Kondratyeva E, et al. Int J Mol Sci. 2023 Mar 28;24(7):6351. doi: 10.3390/ijms24076351. Int J Mol Sci. 2023. PMID: 37047318 Free PMC article.
Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas.
Borovikov A, Marakhonov A, Murtazina A, Davydenko K, Filatova A, Galeeva N, Kadnikova V, Ogorodova N, Gorodilova D, Kanivets I, Pyankov D, Zherdev K, Petel'guzov A, Zubkov P, Polyakov A, Shchagina O, Skoblov M. Borovikov A, et al. Front Genet. 2024 Aug 13;15:1435493. doi: 10.3389/fgene.2024.1435493. eCollection 2024. Front Genet. 2024. PMID: 39192890 Free PMC article.
48 results