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[Tympanophonia as a topical problem of practical medicine].
Morozova SV, Shibina LM, Polyakova EP. Morozova SV, et al. Among authors: polyakova ep. Vestn Otorinolaringol. 2015;80(5):67-70. doi: 10.17116/otorino201580567-70. Vestn Otorinolaringol. 2015. PMID: 26525476 Review. Russian.
A Novel Transmembrane CXCR4 Variant That Expands the WHIM Genotype-Phenotype Paradigm.
Zmajkovicova K, Pawar S, Sharapova SO, Geier CB, Wiest I, Nguyen C, Monticelli H, Maier-Munsa S, Chen K, Sleasman JW, Aleshkevich S, Polyakova E, Sakovich I, Warnatz K, Grimbacher B, Proietti M, Sondheimer N, Ujhazi B, Gordon S, Ellison M, Yilmaz M, Walter JE, Badarau A, Taveras AG, Neff JL, Bledsoe JR, Tarrant TK. Zmajkovicova K, et al. Among authors: polyakova e. Blood Adv. 2024 May 20:bloodadvances.2023011875. doi: 10.1182/bloodadvances.2023011875. Online ahead of print. Blood Adv. 2024. PMID: 38768429
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: polyakova ea. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family.
Polyakova E, van Gils JM, Stöger JL, Kiès P, Egorova AD, Koopmann TT, van Dijk T, DeRuiter MC, Barge-Schaapveld DQCM, Jongbloed MRM. Polyakova E, et al. Circ Genom Precis Med. 2023 Dec;16(6):e004184. doi: 10.1161/CIRCGEN.123.004184. Epub 2023 Oct 11. Circ Genom Precis Med. 2023. PMID: 37818629 No abstract available.
46 results