Zobrazeno 1 - 6
of 6
pro vyhledávání: '"O. A. Salyukova"'
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:
A. A. Sivtsev, I. Zh. Zhalsanova, A. E. Postrigan, E. A. Fonova, O. Yu. Vasilyeva, A. A. Zarubin, L. I. Minaicheva, A. A. Agafonova, V. V. Petrova, E. G. Ravzhaeva, O. A. Salyukova, N. A. Skryabin
Publikováno v:
Russian Clinical Laboratory Diagnostics. 67:250-256
The study aimed to search for mutations in the ATP7B gene using massively parallel sequencing in patients with Wilson disease in the Tomsk region. For 42 patients with suspected Wilson’s disease (aged from 1 to 33 years) was performed molecular gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d39e7bade4661d17067f14088ec93b
https://doi.org/10.51620/0869-2084-2022-67-4-250-256
https://doi.org/10.51620/0869-2084-2022-67-4-250-256
Autor:
L. I. Minaycheva, L. P. Nazarenko, Ye. R. Yeryomina, V. B. Tsyrenova, O. A. Salyukova, S. V. Fadyushina, V. B. Ayushina
Publikováno v:
Бюллетень сибирской медицины, Vol 8, Iss 4(2), Pp 77-79 (2009)
Medical-genetic study of the population of 5 rural districts of Buryatia Republic has been performed. The number of investigative population was 114,6 thousands people. The 23, 9 and 8 nosological forms of autosomal dominant, autosomal recessive and
Externí odkaz:
https://doaj.org/article/f5ac7dc6227747acaeedb3363e554371
Autor:
V. B. Tsyrenova, Ye. R. Yeryomina, V. B. Ayushina, L. P. Nazarenko, S. V. Fadyushina, O. A. Salyukova, L. I. Minaycheva
Publikováno v:
Bûlleten' Sibirskoj Mediciny, Vol 8, Iss 4(2), Pp 77-79 (2009)
Medical-genetic study of the population of 5 rural districts of Buryatia Republic has been performed. The number of investigative population was 114,6 thousands people. The 23, 9 and 8 nosological forms of autosomal dominant, autosomal recessive and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477b2fe73158eeb34ae969ebef697b73
https://doi.org/10.20538/1682-0363-2009-4(2)-77-79
https://doi.org/10.20538/1682-0363-2009-4(2)-77-79
Decoding of the human genome created a qualitatively new state in development of modern fields of science, technology and medicine. One of the basic results of this is formation of a basis for investigating genome of every individual with detection o
