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| Issue |
Title |
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| Vol 24, No 5 (2025) |
Methylation of genes of hereditary aneurysms in aortopathy |
Abstract
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I. A. Goncharova, S. A. Shipulina, A. A. Zarubin, Yu. A. Koroleva, D. S. Panfilov, B. N. Kozlov, M. S. Nazarenko |
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| Vol 24, No 5 (2025) |
Association of Notch signaling pathway genes with the development of anemia |
Abstract
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A. S. Gracheva, D. A. Kashatnikova, I. V. Redkin, V. E. Zakharchenko, T. N. Krylova, A. N. Kuzovlev, L. E. Salnikova |
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| Vol 24, No 5 (2025) |
The experience of the Sverdlovsk region in the implementation of preconception screening for couples planning IVF pregnancy |
Abstract
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S. S. Deryabina, O. V. Lagutina, E. V. Kudryavtseva, E. B. Nikolaeva, O. P. Kovtun |
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| Vol 24, No 5 (2025) |
Association of single nucleotide polymorphism rs2900262 of the C9orf16 with severe course of COVID-19 |
Abstract
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A. V. Dorofeeva |
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| Vol 24, No 5 (2025) |
Evaluation of the cyto- and genotoxicity of a fungicide from the phthalimide class |
Abstract
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O. V. Egorova, N. A. Ilyushina, N. S. Averyanova, O. V. Gorenskaya, A. P. Kotnova, Yu. V. Demidova |
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| Vol 24, No 5 (2025) |
Study of regulatory polymorphic variants of cytokine genes and their receptors with the development of bronchial asthma and tuberculosis |
Abstract
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I. Zh. Zhalsanova, A. A. Zarubin, N. P. Babushkina, E. Yu. Bragina |
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| Vol 24, No 5 (2025) |
Association of DNA methylation abnormalities with abnormal protein levels in the chorionic villi of spontaneous abortions |
Abstract
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A. S. Zuev, D. G. Shevtsov, O. Yu. Vasilyeva, V. V. Demeneva, T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, S. A. Vasilyev |
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| Vol 24, No 5 (2025) |
Molecular mapping of aphidicolin-sensitive fragile chromosome sites in human iPSCs reveals instability of long clinically relevant genes |
Abstract
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A. V. Kislova, F. S. Sviridov, V. O. Pozhitnova, V. V. Sviridova, D. S. Kiselev, L. I. Gumerova, E. S. Voronina, D. G. Zheglo |
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| Vol 24, No 5 (2025) |
Genetic service in a multidisciplinary specialized pediatric clinic: Personalized genetic diagnosis of hereditary diseases |
Abstract
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, A. A. Abramov |
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| Vol 24, No 5 (2025) |
Cardiovascular disease-associated loci as pharmacogenetic markers for the efficacy of hypolipidemic therapy with Rosuvastatin |
Abstract
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S. I. Kononov, E. L. Drozdova, A. A. Polonikova, Yu. E. Azarova, M. A. Solodilova, A. V. Polonikov |
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| Vol 24, No 5 (2025) |
Gene pool of the Russian population of Siberia based on haplotypes of the VDR and NF-kB1 transcription factor genes |
Abstract
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M. B. Lavryashina, B. A. Thorenko, A. V. Meyer, D. O. Imekina |
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| Vol 24, No 5 (2025) |
Anomalies of the auditory nerve in hereditary syndromes |
Abstract
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T. G. Markova, Yu. S. Korneva, S. B. Sugarova |
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| Vol 24, No 5 (2025) |
Some defects of the preanalytical stage during neonatal and advanced neonatal screenings in Bashkortostan |
Abstract
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M. V. Panova, O. I. Mashkov, E. A. Timofeeva, L. Y. Sarbayeva, F. S. Bilalov |
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| Vol 24, No 5 (2025) |
Pilot selective screening and its advantages for early diagnostic of Duchenne/Becker muscular dystrophy in children of the second year of life |
Abstract
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A. A. Atsapkina, A. V. Kiselev, M. A. Maretina, Yu. P. Maretina, Zh. N. Tumasova, O. V. Malysheva, N. M. Dvoynova, I. B. Sosnina, E. V. Snegova, O. A. Klimenkova, Yu. A. Nasikhova, O. S. Glotov, O. N. Bespalova, I. Yu. Kogan, A. S. Glotov |
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| Vol 24, No 5 (2025) |
Use of polygenic score approach for assessing liability to human aggressive behavior |
Abstract
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A. V. Kazantseva, Yu. D. Davydova, R. N. Mustafin, S. B. Malykh, E. K. Khusnutdinova |
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| Vol 24, No 5 (2025) |
Omics technologies to malignant ovarian tumors detection: from metabolomic studies of biological fluids to minimally invasive and non-invasive transcriptomic markers |
Abstract
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D. S. Kutilin, F. E. Filippov, N. V. Porkhanova |
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| Vol 24, No 5 (2025) |
Characteristics of a cohort of patients with hereditary arthrogryposis |
Abstract
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E. A. Melnik, T. V. Markova, O. E. Agranovich, S. I. Trofimova, O. P. Ryzhkova, E. L. Dadali |
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| Vol 24, No 5 (2025) |
Phenotypic manifestations of choroideremia in carriers of a mutation in the CHM gene in childhood |
Abstract
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S. V. Averyanova, V. V. Kadyshev, T. N. Iureva, R. A. Zinchenko, S. I. Kutsev |
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| Vol 24, No 5 (2025) |
On the question of perspectives of preconception screening of gamete donors in the era of expanded neonatal |
Abstract
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M. A. Ampleeva, I. Yu. Efimova, A. A. Mukhina, N. V. Balinova, D. E. Pershin, I. V. Potapova, T. A. Bairova, T. A. Astahova, E. V. Belyaeva, A. Yu. Sambyalova, O. A. Ershova, S. V. Voronin, A. Yu. Shcherbina, S. I. Kutsev, A. V. Marakhonov |
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| Vol 24, No 5 (2025) |
Analysis of the frequency of pathogenic variants in the FLG gene in populations of the Volga-Ural region according to the data of whole genome sequencing |
Abstract
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A. A. Akhmetshin, A. S. Karunas, I. M. Khidiyatova, N. N. Chekanov, E. K. Khusnutdinova |
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| Vol 24, No 5 (2025) |
Transcriptome analysis in the study of genetic diversity of human populations in health and pathology |
Abstract
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A. A. Babovskaya, E. A. Trifonova, A. A. Zarubin, L. V. Rychkova, V. A. Stepanova |
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| Vol 24, No 5 (2025) |
ATM and TP53BP1 in cardiovascular diseases |
Abstract
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N. P. Babushkina, A. D. Dolbnya, A. E. Postrigan, V. V. Ryabov, A. A. Garganeeva |
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| Vol 24, No 5 (2025) |
Genetic polymorphisms of APEX1 rs1130409, hOGG1 rs1052133,XRCC1 rs25489, XРD rs13181 and its association with breast cancer in women younger than 55 years |
Abstract
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M. L. Bakanova, V. I. Minina, Ya. A. Zakharova |
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| Vol 24, No 5 (2025) |
Comparison of the efficacy of drugs aimed at restoring glucocerebrosidase activity in Parkinson’s disease associated with GBA1 mutations in patient-specific cells |
Abstract
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K. S. Basharova, A. E. Kopytova, A. I. Bezrukova, A. V. Rybakov, E. Yu. Zakharova, T. S. Usenko, S. N. Pchelina |
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| Vol 24, No 5 (2025) |
Search of natural selection signals in genomic loci associated with the severity of COVID-19 in Caucasian populations |
Abstract
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A. V. Bocharova, R. A. Korneeva, E. A. Trifonova, V. A. Stepanova |
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| Vol 24, No 5 (2025) |
Clinical significance of non-coding variants identified by whole exome sequencing in 691 patients |
Abstract
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A. A. Buianova, O. P. Parshina, M. Iu. Kuznetsov, A. O. Shmitko, A. F. Samitova, Iu. A. Vasiliadis, O. N. Suchalko, V. V. Cheranev, G. A. Ilyina, A. A. Kuznetsova, I. V. Kozyreva, A. A. Kretova, M. A. Sidorchuk, V. A. Belova, D. O. Korostin |
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| Vol 23, No 11 (2024) |
Clinical manifestations and X-chromosome inactivation in case of duplication of the Xq22.3q25 region |
Abstract
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E. N. Tolmacheva, A. A. Kashevarova, N. N. Sukhanova, A. А. Agafonova, L. I. Minaycheva, E. A. Fonova, O. Yu. Vasilyeva, D. A. Fedotov, I. N. Lebedev |
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| Vol 23, No 6 (2024) |
Southern Altaians: the difference in the structure of the gene pool of Telengites and Altai-Kizhi according to X-STR markers |
Abstract
PDF (Rus)
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K. V. Vagaytseva, L. V. Valikhova, N. A. Kolesnikov, V. N. Kharkov, A. V. Bocharova, I. A. Volkova, V. A. Stepanov |
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| Vol 23, No 6 (2024) |
Population structure of North Ossetia-Alania |
Abstract
PDF (Rus)
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G. I. Еl’chinоvа, I. S. Теbiеvа, Yu. А. Rеvаzоvа, Т. V. Vаsilyеvа, А. V. Маrаkhоnоv, V. V. Каdyshеv, N. V. Bаlinоvа, Е. К. Gintеr, R. А. Zinchеnkо |
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| Vol 12, No 4 (2013) |
VARIABILITY OF INTERLEUKIN 4 AND ITS RECEPTOR GENES IN NATIVE POPULATIONS OF SIBERIA |
Abstract
PDF (Rus)
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V. A. Stepanov, E. A. Trifonova, K. V. Simonova, A. A. Cherednichenko |
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| Vol 12, No 1 (2013) |
MEDICALGENETIC STUDY OF THE TATARCTAN REPUBLIC. IV GAMET'S INDEX |
Abstract
PDF (Rus)
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G. I. El'chinova, L. A. El'kanova, T. A. Vasil'eva, R. A. Zinchenko |
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| Vol 19, No 3 (2020) |
Analysis of chromosome segregation in reciprocal translocation carriers |
Abstract
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Z. N. Tonyan, I. L. Puppo, A. F. Saifitdinova, Y. A. Loginova, O. G. Chiryaeva, A. A. Kinunen, Y. R. Pastuhova, O. A. Leontyeva, N. K. Bichevaya |
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| Vol 19, No 3 (2020) |
A clinical case of prenatal trisomy 2 |
Abstract
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O. E. Talantova, E. A. Serebryakova, O. V. Malysheva, A. V. Tikhonov, E. S. Shabanova, O. A. Efimova, O. G. Chiryaeva, V. S. Prokhorova, A. S. Glotov |
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| Vol 19, No 3 (2020) |
The frequency of aneuploidy in sperm in men with impaired fertility |
Abstract
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A. A. Tarlycheva, Zh. G. Markova, T. M. Sorokina, W. B. Chernyh, N. V. Shilova |
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| Vol 19, No 4 (2020) |
The role of hypothalamic-pituitaryadrenal axis genes in individual variance of stress sensitivity |
Abstract
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A. V. Kazantseva, Yu. D. Davydova, R. F. Enikeeva, S. B. Malykh, M. M. Lobaskova, E. K. Khusnutdinova |
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| Vol 19, No 4 (2020) |
Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case) |
Abstract
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I. A. Sinelnikova, I. V. Soprunova, O. P. Nikolaeva |
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| Vol 19, No 4 (2020) |
Expression of alpha-synuclein gene and genes of lysosomal membrane proteins and enzymes in Parkinson’s disease associated with mutation in the GBA gene |
Abstract
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T. S. Usenko, A. I. Bezrukova, D. A. Bogdanova, K. A. Senkevich, A. V. Kudrevatykh, I. V. Miliukhina, S. N. Pchelina |
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| Vol 19, No 5 (2020) |
Features of CpG site methylation within miRNA gene MIR10B and transcription factor gene TWIST1 in atherosclerosis |
Abstract
PDF (Rus)
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A. V. Markov, N. P. Babushkina, M. V. Golubenko, R. R. Salakhov, A. A. Zarubin, A. A. Sleptsov, Yu. A. Koroleva, D. V. Sharysh, E. F. Muslimova, S. A. Afanasyev, M. S. Kuznetsov, B. N. Kozlov, M. S. Nazarenko |
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| Vol 19, No 5 (2020) |
Identification of a mutation in the polycystin 1 gene in a patient with intracranial aneurysm |
Abstract
PDF (Rus)
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R. I. Sultanova, E. K. Khusnutdinova, R. I. Khusainova |
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| Vol 19, No 6 (2020) |
Expression of FN1 and PDGFRβ in lymph nodes metastasis of breast cancer |
Abstract
PDF (Rus)
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K. A. Grishina, N. I. Pospekhova, V. A. Khaylenko, A. V. Karpukhin |
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| Vol 19, No 6 (2020) |
Hypoxia-inducible factor: analysis of the HIF1A and HIF1B single nucleotide polymorphisms and their functional role in development of uterine fibroids |
Abstract
PDF (Rus)
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E. M. Barysheva, S. M. Zaitsev, N. V. Goryainova, L. A. Ponomareva, O. B. Polshvedkina, O. Yu. Ivanova, O. Yu. Bushueva |
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| Vol 19, No 6 (2020) |
Polymorphic variants of DNA repair enzyme genes in the pathogenesis of lung cancer in women |
Abstract
PDF (Rus)
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R. A. Titov, V. I. Minina, M. L. Bakanova, Y. A. Savchenko |
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| Vol 19, No 7 (2020) |
The influence of inbred marriages on the incidence of children |
Abstract
PDF (Rus)
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S. Z. Garayeva |
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| Vol 19, No 7 (2020) |
Features of pathogenic CFTR gene variants in CF patients with negative neonatal screening |
Abstract
PDF (Rus)
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N. V. Petrova, N. Y. Kashirskaya, E. I. Kondratyeva, V. D. Sherman, A. Y. Voronkova, T. A. Vasilyeva, R. A. Zinchenko |
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| Vol 19, No 7 (2020) |
Pyrosequencing method in the diagnosis of Gilbert syndrome |
Abstract
PDF (Rus)
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L. I. Melnikova, L. Yu. Ilchenko, E. A. Dunaeva, M. V. Kozitsyna, O. P. Dribnokhodova, K. O. Mironov, P. V. Izhevskiy, V. V. Nikishin |
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| Vol 19, No 8 (2020) |
Autosomal recessive cataract (CTRCT18) in Yakutia: results of molecular genetic studies |
Abstract
PDF (Rus)
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N. A. Barashkov, F. A. Konovalov, A. M. Cherdonova, T. V. Borisova, A. V. Solovyev, F. M. Teryutin, V. G. Pshennikova, N. V. Sapozhnikova, L. S. Vychuzhina, T. E. Burtseva, F. A. Platonov, E. K. Khusnutdinova, O. L. Posukh, S. A. Fedorova |
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| Vol 19, No 8 (2020) |
The role of collagen protein genes in the development of pelvic floor dysfunction in women |
Abstract
PDF (Rus)
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D. A. Vishnevsky, L. V. Akulenko, G. R. Kasyan, N. V. Tupikina, D. U. Pushkar |
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| Vol 19, No 9 (2020) |
Distribution by sex and age of patients with monogenic pathology and gender and age structure of urban and rural populations of North Ossetia |
Abstract
PDF (Rus)
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G. I. El’Chinova, Z. K. Getoeva, M. Yu. Dzhadzhieva, V. V. Kadyshev, N. V. Balinova, Yu. A. Revazova, R. A. Zinchenko |
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| Vol 19, No 9 (2020) |
Molecular-cytogenetics characteristics for cancerogenic risk estimation in I-II generations of irradiated persons |
Abstract
PDF (Rus)
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L. S. Baleva, A. E. Sipyagina, V. S. Sukhorukov, N. M. Karakhan, N. I. Egorova |
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| Vol 19, No 10 (2020) |
The impact of the use of genetic technology on the rights of future generations |
Abstract
PDF (Rus)
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O. V. Popova, O. A. Serova |
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