Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Natalia Balinova"'
Autor:
Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10844 (2024)
The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified
Externí odkaz:
https://doaj.org/article/3b6702a753e74b0f826ce46b88e6f036
Autor:
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko
Publikováno v:
PeerJ, Vol 11, p e14514 (2023)
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health off
Externí odkaz:
https://doaj.org/article/ab45bd4b32a24214b6d57e47e6f6377c
Autor:
Nika Petrova, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Nataliya Kashirskaya, Varvara Galkina, Evgeniy Ginter, Sergey Kutsev, Rena Zinchenko
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the CFTR gene. The distribution and frequency of CFTR variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the CFTR gene was
Externí odkaz:
https://doaj.org/article/796eba6632824af0b85d51231d6a7c3a
Autor:
Natalia Balinova
Publikováno v:
Sibirskie istoricheskie issledovaniya. :129-139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87c37c952baf0803add790484fc7f0ea
https://doi.org/10.17223/2312461x/33/6
https://doi.org/10.17223/2312461x/33/6
Autor:
Natalia Balinova, Murat Dzhaubermezov, Siiri Rootsi, Maere Reidla, Jüri Parik, Nailya Spitsyna, Rena Zinchenko, Galina El’chinova, Elza Khusnutdinova, Sergey Litvinov, Elena Ayyzhi, Irina Khomyakova
Publikováno v:
Collegium antropologicum
Volume 46
Issue 2
Volume 46
Issue 2
We analyzed the data on the variability of the Y chromosome and mitochondrial DNA (mtDNA) in populations of the Tsaatans of Mongolia and the Tozhu Tuvans of Russia. The populations studied are characterized by low genetic diver¬sity for both marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f567c20786a36f8ce230e1a3132957f
https://hrcak.srce.hr/file/407234
https://hrcak.srce.hr/file/407234
Autor:
Ri, Khusainova, Natalia Balinova, Ia, Kutuev, Spitsina NKh, Vl, Akhmetova, Rr, Valiev, Va, Spitsyn, Ek, Khusnutdinova
Publikováno v:
Europe PubMed Central
Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were examined in three subethnic groups of Kalmyks (Torgouds, Derbets, and Buzava). In general, the pattern of allele frequencies in Kalmyks was consistent wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ca0383cf1bb0ada792487ac2005d2f7b
https://pubmed.ncbi.nlm.nih.gov/19382694
https://pubmed.ncbi.nlm.nih.gov/19382694
Autor:
Natalia Balinova, Khoninov, V.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a425e09cc03800ff96385abfdc64042
http://www.scopus.com/inward/record.url?eid=2-s2.0-85091968303&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-85091968303&partnerID=MN8TOARS
