Predicting the most deleterious missense nonsynonymous single-nucleotide polymorphisms of hennekam syndrome-causing CCBE1 gene, in silico analysis K Shinwari, L Guojun, SS Deryabina, MA Bolkov, IA Tuzankina, ... The Scientific World Journal 2021, 1-19, 2021 | 10 | 2021 |
Neonatal screening for severe combined immune deficiency in Russia: Glorious future or tomorrow's reality? SS Deryabina, IA Tuzankina, EV Vlasova, MA Bolkov, VN Shershnev Publishing House of the Union of Pediatricians 16 (1), 59-66, 2017 | 10 | 2017 |
Retrospective diagnosis of primary immunodeficiencies for children in Sverdlovsk Region SS Deryabina, IA Tuzankina, EV Vlasova, SG Lavrina, VN Shershnev Meditsinskaya Immunologiya 18 (6), 583, 2016 | 10 | 2016 |
Familial case of chromosome 22q11. 2 deletion syndrome IA Tuzankina, SS Deryabina, EV Vlasova, MA Bolkov Meditsinskaya Immunologiya 19 (1), 95, 2017 | 3 | 2017 |
In Silico analysis revealed five novel high-risk single-nucleotide polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE gene causing … K Shinwari, MA Bolkov, M Yasir Akbar, L Guojun, SS Deryabina, ... The Scientific World Journal 2022, 2022 | 2 | 2022 |
Analysis of the TREC and KREC levels in the dried blood spots of healthy newborns with different gestational ages and weights S Khyber Acta Naturae (англоязычная версия) 14 (1), 101-108, 2022 | 2 | 2022 |
Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region SS Deryabina, OV Lagutina, IA Tuzankina, EV Vlasova, MA Bolkov Medical Immunology (Russia) 22 (6), 1163-1172, 2020 | 2 | 2020 |
CLINICAL-LABORATORY CHARACTERISTIC OF PATIENTS WITH SYNDROME DIGEORGE IA Pashnina, EV Vlasova, SS Deryabina Russian Journal of Immunology 22 (3), 1239-1243, 2019 | 2 | 2019 |
Determination of reference values for TREC and KREC in dry blood spots of newborns from different gestation ages in Sverdlovsk Region SS Deryabina, IA Tuzankina, VN Shershnev Medical Immunology (Russia) 20 (1), 85-98, 2018 | 2 | 2018 |
An unusual family case of ADA-SCID in Russian patients K Shinwari, M Bolkov, E Vlasova, S Deryabina, D Chermokhin, ... 2021 IEEE Ural-Siberian Conference on Computational Technologies in …, 2021 | 1 | 2021 |
A Novel Bruton’s Tyrosine Kinase Mutation in Russian Patient with X-Linked Agammaglobulinemia S Deryabina, I Tuzankina, E Vlasova, A Pavlova, M Bolkov Case Reports in Clinical Medicine 6 (10), 241-249, 2017 | 1 | 2017 |
Neonatal screening: some ethical issues of expanding spectrum for genetically determined diseases SS Deryabina Current Pediatrics 14 (6), 714-723, 2016 | 1 | 2016 |
Molecular-genetic study of SMN1 and SMN2 genes associated with spinal muscular atrophy in individuals with infertility prior to in vitro fertilization EV Kudryavtseva, OV Lagutina, VV Kovalev, SS Deryabina, IA Zakharova, ... Obstetrics, Gynecology and Reproduction 17 (6), 707-717, 2024 | | 2024 |
The results of the pilot project on primary immunodeficiencies in Sverdlovsk region (Russian Federation) S Deryabina, D Cheremokhin, O Lagutina, IA Tuzankina EUROPEAN JOURNAL OF HUMAN GENETICS 32, 174-174, 2024 | | 2024 |
New evidence of the effect of parental age on the likelihood of having children with achondroplasia O Lagutina, S Deryabina EUROPEAN JOURNAL OF HUMAN GENETICS 32, 138-138, 2024 | | 2024 |
Prenatal diagnosis of thanatophoric dysplasia OV Lagutina, MG Sumina, EV Kudryavtseva, VM Natal'ja, SS Deryabina Obstetrics and Gynecology, 193-199, 2023 | | 2023 |
Khyber Shinwari, Mikhail A. Bolkov, Muhammad Yasir Akbar, 3 Liu Guojun, 4 SS Deryabina, IA Tuzankina, VA Chereshnev | | 2022 |
New" ural" variants of BTK-gene in Russian patients with agammaglobulinemia SS Deryabina, E Vlasova, I Tusankina European Journal of Human Genetics 30 (S1), 228-228, 2022 | | 2022 |
Variability of CATCH-22 symptome complex within the framework of 22q11. 2 deletion syndrome DA Cheremokhin, SS Deryabina, IA Tuzankina, EV Vlasova, NV Nikitina, ... Medical Immunology (Russia) 23 (6), 1357-1366, 2021 | | 2021 |
Deletion and duplication: unusual case of diagnostics for patient with cystic fibrosis S Deryabina, O Lagutina, N Nikitina, E Nikolaeva EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 210-210, 2020 | | 2020 |