Search Results - "Fonova, Elizaveta A."
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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Published in Nature medicine (01-12-2023)“…Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in…”
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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study
Published in Genes (09-12-2020)“…Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to…”
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Current aspects and approaches to molecular diagnostics of hereditary neuromuscular diseases
Published in Vestnik Rossiĭskogo universiteta druzhby narodov. Serii͡a︡ Medit͡s︡ina (01-06-2024)“…Relevance. The problem of diagnosing hereditary neuromuscular diseases is one of the most difficult in the medical specialists’ practice. Molecular genetic…”
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