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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV. Sharapova SO, et al. Among authors: pavlova av. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.
Ovsyannikova GS, Fedorova DV, Tesakov IP, Martyanov AA, Ignatova AA, Ponomarenko EA, Zharkov PA, Pavlova AV, Raykina EV, Maschan MA, Panteleev MA, Novichkova GA, Sveshnikova AN, Smetanina NS. Ovsyannikova GS, et al. Among authors: pavlova av. Haematologica. 2022 Oct 1;107(10):2511-2516. doi: 10.3324/haematol.2022.281340. Haematologica. 2022. PMID: 35796010 Free PMC article. No abstract available.
[A case report of familial dyskeratosis congenital. Case report].
Luchkin AV, Mikhailova EA, Fidarova ZT, Troitskaya VV, Galtseva IV, Kovrigina AM, Glinkina SA, Dvirnyk VN, Raykina EV, Pavlova AV, Demina IA, Parovichnikova EN. Luchkin AV, et al. Among authors: pavlova av. Ter Arkh. 2021 Jul 23;93(7):818-825. doi: 10.26442/00403660.2021.07.200955. Ter Arkh. 2021. PMID: 36286734 Russian.
Historical review on genetic analysis in hemophilia A.
Oldenburg J, Pezeshkpoor B, Pavlova A. Oldenburg J, et al. Semin Thromb Hemost. 2014 Nov;40(8):895-902. doi: 10.1055/s-0034-1395161. Epub 2014 Nov 6. Semin Thromb Hemost. 2014. PMID: 25377322 Review.
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