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Дерябина Светлана Степановна

Observed names: S. Deryabina, S. S. Deryabina, S.S. Deryabina, Svetlana Deriabina, Svetlana Deryabina, Svetlana S. Deryabina, Дерябина, С. С., Дерябина, Светлана Степановна, С. С. Дерябина, С.С. Дерябина, Светлана Степановна Дерябина
Observed institutions: Ural Federal University, Russian Academy of Sciences, Ural State Medical University, Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Institute of Medical Cell Technologies
ORCID: 0000-0001-5614-5944
Observed ORCID: 0000-0001-5614-5944
OpenAlex ID: A5008446169
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
2021 · Khyber Shinwari, Liu Guojun, et al. · The Scientific World JOURNAL · 15
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Analysis of the TREC and KREC Levels in the Dried Blood Spots of Healthy Newborns with Different Gestational Ages and Weights
2022 · Dmitrii A. Cheremokhin, Khyber Shinwari, et al. · Acta Naturae · 11
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Retrospective Diagnosis of Primary Immunodeficiencies for Children in Sverdlovsk Region
2016 · S. S. Deryabina, I. A. Tuzankina, et al. · Medical Immunology (Russia) · 11
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Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?
2017 · S. S. Deryabina, I. A. Tuzankina, et al. · Вопросы современной педиатрии · 9
FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
2017 · I. A. Tuzankina, S. S. Deryabina, et al. · Medical Immunology (Russia) · 8
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In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis
2022 · Khyber Shinwari, Mikhail A. Bolkov, et al. · The Scientific World JOURNAL · 6
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Determination of Reference Values for Trec and Krec in Dry Blood Spots of Newborns From Different Gestation Ages in Sverdlovsk Region
2018 · S. S. Deryabina, I. A. Tuzankina, et al. · Medical Immunology (Russia) · 6
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Pilot Regional Project of Neonatal Screening for Primary Immunodeficiencies in Sverdlovsk Oblast of Russia. From Screening to Prophylactic Medical Checkup
2023 · S.S. Deryabina, I.A. Tuzankina, et al. · PEDIATRIA Journal named after G N SPERANSKY · 4
Immunogenetic aspects of osteoarthritis (literature review)
2022 · Yu.A. Kazanсev, A.T. Urazaeva, et al. · Genij Ortopedii · 3
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Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases
2016 · S. S. Deryabina · Вопросы современной педиатрии · 3
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Prospects of screening for carriers of hereditary diseases in pre-conception preparation programs
2024 · E.V. Kudryavtseva, S.S. Deryabina, et al. · Russian Bulletin of Obstetrician-Gynecologist · 2
Molecular-genetic study of SMN1 and SMN2 genes associated with spinal muscular atrophy in individuals with infertility prior to in vitro fertilization
2024 · E. V. Kudryavtseva, O. V. Lagutina, et al. · Obstetrics Gynecology and Reproduction · 1
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An unusual family case of ADA-SCID in Russian patients
2021 · Khyber Shinwari, Mikhail Bolkov, et al. · IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine (CSGB) · 1
Retrospective analysis of pediatric primary immunodeficiencies with congenital heart defects
2020 · S. S. Deryabina, D. A. Cheremokhin, et al. · Russian Journal of Immunology · 1
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A Novel Bruton’s Tyrosine Kinase Mutation in Russian Patient with X-Linked Agammaglobulinemia
2017 · S. Deryabina, I. Tuzankina, et al. · Case Reports in Clinical Medicine · 1
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Риск наследственной патологии при ЭКО: клинический случай рождения ребенка с муковисцидозом
2023 · Копылова, Екатерина Александровна, Дерябина, Светлана Степановна, et al. · USMU Medical Bulletin
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Variability of CATCH-22 symptome complex within the framework of 22q11.2 deletion syndrome
2021 · D. A. Cheremokhin, S. S. Deryabina, et al. · Medical Immunology (Russia)
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Молекулярно-генетическая диагностика первичных иммунодефицитов В Свердловской области
2020 · С. С. Дерябина, О. В. Лагутина, et al. · Medical Immunology (Russia)
Клинико-лабораторная Характеристика Пациентов С Синдромом Ди-джорджи
2020 · И. А. Пашнина, Е. В. Власова, et al. · Russian Journal of Immunology
Diagnosis of milder forms of phenylketonuria in the population of the Sverdlovsk region
2020 · С.С. Дерябина, О.В. Лагутина, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
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Применение цифровых технологий в российских учреждениях здравоохранения для выявления первичного иммунодефицита у детей
2020 · Екатерина Васильевна Зайцева, Людмила Ивановна Воронина, et al. · Естественные и Технические Науки
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Family Members with Congenital Heart Disease and Hypogammaglobulinemia
2019 · Irina A. Tuzankina, Mikhail A. Bolkov, et al. · Springer eBooks
Case of chromosome 22q11.2 deletion syndrome in Russian family
2018 · Svetlana Deriabina · MOJ Immunology
Молекулярно-генетическое исследование ассоциированных со спинальной мышечной атрофией генов SMN1 и SMN2 у лиц с бесплодием, направленных на проведение экстракорпорального оплодотворения
· Кудрявцева Елена Владимировна, Лагутина Ольга Викторовна, et al. · CyberLeninK (CyberLeninka)
Works count: 29
Citation count: 82
H-index: 6
I10-index: 3
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