Zobrazeno 1 - 10
of 71
pro vyhledávání: '"A. A. Fonova"'
Autor:
Zhalsanova, Irina Zhargalovna1 (AUTHOR) irina.zhalsanova@medgenetics.ru, Fonova, Elizaveta Alekseevna1 (AUTHOR), Valiakhmetov, Nail Raushanovich1 (AUTHOR), Kolesnikov, Nikita Aleksandrovich1 (AUTHOR), Gosudarkina, Sofia Nikolaevna1 (AUTHOR), Agafonova, Anna Aleksandrovna1 (AUTHOR), Ravzhaeva, Ekaterina Georgievna1 (AUTHOR), Seitova, Gulnara Narimanovna1 (AUTHOR), Stepanov, Vadim Anatolyevich1 (AUTHOR), Skryabin, Nikolay Alekseevich1 (AUTHOR) nikolay.skryabin@medgenetics.ru
Publikováno v:
International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p13025. 9p.
Publikováno v:
RUDN Journal of Medicine, Vol 28, Iss 2, Pp 282-292 (2024)
Relevance. The problem of diagnosing hereditary neuromuscular diseases is one of the most difficult in the medical specialists’ practice. Molecular genetic diagnostics is one of the fundamental aspects in the classification and subsequent approache
Externí odkaz:
https://doaj.org/article/53385cd5a82b4c0eb10a91d10643f1a2
Autor:
T. V. Karamysheva, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, N. B. Rubtsov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with
Externí odkaz:
https://doaj.org/article/88afa4cfc61a4a5da256eddbcc50ab10
Akademický článek
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Publikováno v:
Экономика региона / Economy of Regions. 18(3):653-672
Externí odkaz:
https://www.ceeol.com/search/article-detail?id=1067076
Autor:
E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV
Externí odkaz:
https://doaj.org/article/e9e76720658348708ac7cc6e1188419a
Autor:
A. A. Kashevarova, E. O. Belyaeva, E. A. Fonova, M. E. Lopatkina, O. Y. Vasilyeva, D. A. Fedotov, A. A. Zarubin, A. A. Sivtsev, V. V. Demeneva, O. A. Salyukova, V. V. Petrova, S. V. Fadiushina, L. I. Minaycheva, G. N. Seitova, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction aCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients, probably pathogenic CNVs or variants with uncertain clinical significance are detected. It m
Externí odkaz:
https://doaj.org/article/40662c68514145aab44af67c6d70bd1d
Autor:
M.A. Beley, E. G. Fonova
Publikováno v:
Слово.ру: балтийский акцент, Vol 12, Iss 1, Pp 50-62 (2021)
The article examines the specifics of the translation of postmodern philosophical terminology. The authors explore Russian translations of the works of the modern French postmodernist philosophers Michel Foucault, Jean Baudrillard and Jacques Der
Externí odkaz:
https://doaj.org/article/5392e1ca37ea4c788a33bfea8f45a46c
Publikováno v:
Экономика региона, Vol 18, Iss 3 (2022)
Сокращение деловой активности в российской экономике, вызванное антиковидными ограничениями, оказалось значительно меньше прогнозиру
Externí odkaz:
https://doaj.org/article/80d2f6c4dfc24004b1852626cf834ac4
Publikováno v:
Юг России: экология, развитие, Vol 16, Iss 4 (2022)
Aim. Development of new approaches to ecological and geological zoning of territories based on an integrated assessment of the state of abiotic and biotic components of the environment.Material and Methods. The methodology of teratological analysis o
Externí odkaz:
https://doaj.org/article/4f9b5547b2164fd68732cd2201fa861e