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Svetlana Deryabina
Svetlana Deryabina
Институт иммунологии и физиологии УрО РАН
Verified email at mis66.ru
Title
Cited by
Cited by
Year
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
102021
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
102017
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
102016
Familial case of chromosome 22q11. 2 deletion syndrome
IA Tuzankina, SS Deryabina, EV Vlasova, MA Bolkov
Meditsinskaya Immunologiya 19 (1), 95, 2017
32017
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
22022
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
22022
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
22020
CLINICAL-LABORATORY CHARACTERISTIC OF PATIENTS WITH SYNDROME DIGEORGE
IA Pashnina, EV Vlasova, SS Deryabina
Russian Journal of Immunology 22 (3), 1239-1243, 2019
22019
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
22018
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
12021
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
12017
Neonatal screening: some ethical issues of expanding spectrum for genetically determined diseases
SS Deryabina
Current Pediatrics 14 (6), 714-723, 2016
12016
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
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