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| Issue |
Title |
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| Vol 70, No 4 (2025) |
Case report of pulmonary mucormycosis in children with diabetes mellitus type 1 |
Abstract
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A. V. Lipunov, O. G. Kositskaya, S. Y. Semykin, A. M. Michopulos, P. V. Shumilov |
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| Vol 70, No 4 (2025) |
ROHHAD syndrome: case report of an ultra-rare disease |
Abstract
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M. P. Safonova, O. A. Serebryakova, E. A. Rubtsova, N. M. Zaikova, A. N. Podgorny, E. A. Potrokhova |
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| Vol 70, No 3 (2025) |
A clinical case of early diagnosis of Barakat syndrome caused by a new mutation in the GATA3 gene |
Abstract
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V. A. Mironova, H. A. Sarkisyan, Yu. V. Zhirkova, E. I. Shabelnikova, A. P. Khokhlova, V. G. Shatalov, K. S. Zizyukina, O. S. Kotova, L. M. Makarova, M. A. Ovsyannikova, M. M. Nasser, P. V. Shumilov |
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| Vol 70, No 3 (2025) |
Iron deficiency anemia in children-athletes |
Abstract
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L. A. Balykova, S. A. Ivyanskiy, V. S. Vereshchagina, D.A. T. Mendes, A. V. Krasnopolskaya, T. M. Duvayarova, O. M. Soldatov, M. G. Galkina |
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| Vol 70, No 3 (2025) |
Clinical case of mucinous invasive adenocarcinoma of the lung in an adolescent |
Abstract
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T. V. Zabolotskikh, A. A. Babenko, G. V. Grigorenko, S. V. Medvedeva, M. V. Kharchenko |
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| Vol 70, No 2 (2025) |
Features of clinical manifestations in a child with ring chromosome 13 syndrome in the neonatal period |
Abstract
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H. A. Sarkisyan, A. P. Khokhlova, A. B. Smolyannikova, E. I. Shabelnik, O. V. Shatokhina, O. I. Savateeva, L. M. Makarova, O. V. Tsilinskaya, P. V. Shumilov |
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| Vol 70, No 2 (2025) |
Clinical case of Aicardi–Goutières syndrome type 6 |
Abstract
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V. A. Akimova, E. E. Repa, V. A. Marymova, O. S. Selezneva, E. V. Dudnikova, E. A. Besedina, A. S. Badyan, A. V. Dyuzheva, E. V. Nesterova |
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| Vol 70, No 2 (2025) |
Purulent complications in a case of submandibular lymphadenitis in a 5-month-old child |
Abstract
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V. I. Morozov, L. M. Mirolubov, I. N. Nurmeev, N. Z. Amerhanov, G. I. Davletshina |
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| Vol 70, No 2/2 (2025) |
Single-stage laparoscopic pyeloplasty and nephropexy in a 14-year-old child |
Abstract
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M. M. Khanov, A. S. Vrublevskiy, E. N. Vrublevskaya, A. A. Oganisyan, A. I. Medvedev, F. O. Turov, R. Yu. Valiev, S. G. Vrublevskiy |
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| Vol 70, No 2/2 (2025) |
Use of botulotoxine type A in the treatment of a child with infravesical obstruction of the urinary tract |
Abstract
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E. N. Vrublevskaya, M. M. Khanov, A. A. Oganisyan, A. S. Vrublevskiy, F. O. Turov, R. Yu. Valiev, S. G. Vrublevskiy |
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| Vol 70, No 1 (2025) |
Noonan syndrome combined with juvenile xanthogranuloma in a newborn |
Abstract
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D. M. Mushcherova, U. S. Severgina, A. P. Khokhlova, H. A. Sarkisyan, S. V. Cherkasova, E. I. Shabelnikova, P. V. Shumilov |
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| Vol 70, No 1 (2025) |
A rare form of immunodeficiency condition: Roifman syndrome |
Abstract
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Yu. L. Mizernitsky, T. N. Pronkina, I. E. Zorina, V. I. Burlakov, Yu. A. Rodina, A. Yu. Shcherbin |
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| Vol 69, No 6 (2024) |
Orofaciodigital syndrome type I in a twelve-year-old child |
Abstract
PDF (Rus)
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M. P. Safonova, N. M. Zaykova, O. A. Serebryakova, E. A. Potrokhova, L. S. Baleva |
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| Vol 69, No 6 (2024) |
A clinical case of papillary thyroid cancer associated with a PTEN gene defect |
Abstract
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R. A. Atanesyan, L. Ja. Klimov, T. M. Vdovina, G. A. Saneeva, E. I. Andreeva, I. A. Stremenkova, R. I. Arakelyan, I. K. Gasparyan |
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| Vol 69, No 6 (2024) |
Developmental disorder and facial dysmorphia syndrome caused by a mutation in the MORC2 gene |
Abstract
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E. A. Nikolaeva, G. V. Dzhivanshiryan, O. N. Komarova, S. V. Bochenkov, A. Yu. Nikolskayav, D. Yu. Tokareva, V. Yu. Voinova |
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| Vol 69, No 5 (2024) |
A case of congenital cytomegalovirus infection in a child with Prader–Willi syndrome |
Abstract
PDF (Rus)
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G. R. Fatkullina, V. A. Anokhin, G. R. Khasanova |
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| Vol 69, No 5 (2024) |
Epileptic encephalopathy, autism and cognitive deficit caused by the SYNGAP1 gene mutation |
Abstract
PDF (Rus)
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R. G. Gamirova, K. R. Zabirova, E. A. Gorobets, A. R. Safina, L. R. Samoilova, S. Ya. Volgina |
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| Vol 69, No 5 (2024) |
Overlap syndrome in Crohn’s disease |
Abstract
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D. I. Sadykova, Z. R. Khabibrakhmanova, A. A. Kamalova, R. R. Shakirova, A. I. Sadrieva |
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| Vol 69, No 5 (2024) |
Prolonged catamnesis of a child with type I mucopolysaccharidosis, Gurler syndrome, receiving enzyme replacement therapy |
Abstract
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D. R. Sabirova, A. A. Kamalova, A. A. Akhmadullina, N. A. Artykova, L. A. Sabirova |
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| Vol 69, No 4 (2024) |
Parenti–Migno neurodevelopmental disorder: a case associated with a new variant in the CHD5 gene |
Abstract
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A. A. Kudakaeva, I. S. Dantsev, V. Yu. Voinova |
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| Vol 69, No 4 (2024) |
A clinical case of multilocus imprinting disturbances: the first description in the Russian Federation |
Abstract
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E. G. Panchenko, O. V. Vasyukova, P. L. Okorokov, D. A. Kopytina, V. O. Sigin, V. V. Strelnikov, D. V. Zaletaev |
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| Vol 69, No 4 (2024) |
Klinefelter syndrome in a patient with double Y-autosomal translocation |
Abstract
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V. B. Chernykh, F. M. Bostanova, T. M. Sorokina, M. I. Shtaut, L. P. Melikyan, O. A. Schagina, N. V. Shilova |
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| Vol 69, No 1 (2024) |
Polymorphism of clinical manifestations of Phelan– McDermid syndrome |
Abstract
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D. O. Ivanov, L. V. Ditkovskaya, O. I. Marina, O. K. Gorkina, S. A. Laptiev, E. N. Suspitsyn, V. V. Brzheskij, N. V. Nikitina, E. L. Efimova, P. V. Pavlov, Yu. S. Aleksandrovich, O. G. Chiryaeva |
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| Vol 69, No 1 (2024) |
Management of a child with portopulmonal hypertension due to cavernous transformation of the portal vein and sple- norenal anastomosis |
Abstract
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E. Yu. Emelyanchik, N. G. Volf, T. V. Cherkashina, E. A. Anikina, I. Yu. Naumenko, L. N. Antsiferova, E. N. Kuzminykh |
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| Vol 69, No 1 (2024) |
Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy |
Abstract
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Yu. G. Samoilova, M. V. Matveeva, O. A. Oleynik, D. A. Kudlay, D. V. Podchinenova, T. D. Vachadze, E. V. Gorbatenko |
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| Vol 69, No 1 (2024) |
Crouzon syndrome: features of clinical manifestations, management and outcomes in children |
Abstract
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M. A. Sokolova, E. A. Sarkisyan, P. V. Shumilov, L. D. Vorona, L. A. Levchenko, Yu. L. Ishutina, E. I. Shabelnikova, A. I. Krapivkin |
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| Vol 69, No 1 (2024) |
Clinico-radiological characteristics of two patients with geroderma osteodysplasticum caused by new nucleotide variants in the GORAB gene |
Abstract
PDF (Rus)
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E. S. Merkuryeva, T. V. Markova, V. M. Kenis, А. N. Semyachkina, E. А. Nikolaeva, S. V. Bochenkov, A. S. Kuchina, O. P. Ryzhkova, N. A. Doroshchuk, E. L. Dadali |
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| Vol 68, No 6 (2023) |
Pathophysiological mechanisms and clinical consequences of exposure of the fetus and newborn to new psychoactive substances — “bath salts” |
Abstract
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E. V. Loshkova, I. V. Doroshenko, T. S. Lyulka, Y. S. Rafikov, V. A. Zhelev, S. P. Ermolenko, E. V. Mikhalev, I. R. Grishkevich, N. E. Melnikov, A. L. Solnyshko, A. A. Bogunetsky, E. I. Kondratieva, A. I. Khavkin, N. D. Odinaeva, E. I. Makarevich |
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| Vol 68, No 6 (2023) |
Immunodeficiency masks: a complex diagnostic case of Nijmegen breakage syndrome |
Abstract
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Y. L. Mizernitskiy, I. E. Zorina, E. S. Ryngachenko, T. N. Kuzmina, E. V. Deripapa, Yu. A. Rodina, A. Yu. Shcherbina |
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| Vol 68, No 6 (2023) |
Tuberous sclerosis associated with congenital lymphedema |
Abstract
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R. G. Gamirova, E. N. Garifullina, A. K. Feiskhanov, E. A. Gorobets, D. D. Gaynetdinova, S. Ya. Volgina, M. Yu. Dorofeeva |
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| Vol 68, No 6 (2023) |
Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1 |
Abstract
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R. G. Gamirova, K. R. Zabirova, A. R. Safina, E. A. Gorobets, S. Ya. Volgina |
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| Vol 68, No 6 (2023) |
ANCA-associated vasculitis with recurrent thrombosis in a teenager after the new coronavirus infection |
Abstract
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L. A. Balykova, O. M. Soldatov, T. I. Razdolkina, V. S. Vereshchagina, M. V. Shirmankina, A. V. Krasnopolskaya, E. F. Moskovskaya |
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| Vol 68, No 6 (2023) |
Clinical Case of Cor Triatriatum |
Abstract
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S. V. Turieva, T. B. Kasokhov, I. G. Gussoeva, A. M. Bigaeva, L. S. Tuaeva |
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| Vol 68, No 5 (2023) |
A case of Kaposi’s varicelliform eruption in a 4-month-old child |
Abstract
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G. R. Fatkullina, V. A. Anokhin, F. M. Safina, P. N. Emel’yanova, T. K. Bakhtiguzina, A. M. Sabitova |
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| Vol 68, No 5 (2023) |
Acute kidney injury as the onset of cystic fibrosis in a child of 1 year of age |
Abstract
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A. I. Safina, T. V. Mikhailova, I. I. Zakirov, I. M. Suleimanova |
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| Vol 68, No 5 (2023) |
Sarcopenic obesity in a child with type IXa glycogenosis in combination with eosinophilic esophagitis and Legg–Calvé–Perthes disease |
Abstract
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A. V. Ishbuldina, R. F. Rakhmaeva, A. A. Kamalova, D. V. Usova, A. M. Khazieva, A. M. Nigmatullina, M. Sh. Zainetdinova |
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| Vol 68, No 5 (2023) |
Diagnostics of combined hereditary cardiovascular pathology in a teenager |
Abstract
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D. I. Sadykova, O. S. Groznova, G. V. Pirogova, E. S. Slastnikova, L. F. Galimova, N. N. Firsova, A. A. Kucheriavaia, Ch. D. Khaliullina |
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| Vol 68, No 5 (2023) |
Difficulties in diagnosing moyamoya disease |
Abstract
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Yu. S. Melnikova, D. I. Sadykova, T. P. Makarova, D. M. Yasav, A. F. Khamidullin, M. F. Bikmullin |
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| Vol 68, No 5 (2023) |
Hemophagocytic syndrome and coronary artery aneurysms in a child with Kawasaki disease |
Abstract
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T. P. Makarova, D. I. Sadykova, N. N. Firsova, D. R. Sabirova, А. А. Kucheriavaia, Yu. S. Melnikova, A. V. Sergina, P. V. Sergina, A. I. Gimadieva |
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| Vol 68, No 5 (2023) |
A rare case of cutaneous mastocytosis in pediatric practice |
Abstract
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G. A. Kulakova, N. A. Solovieva, S. Ya. Volgina, E. A. Kurmaeva, O. V. Kalinina, I. I. Kaiumova, L. A. Zarva |
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| Vol 68, No 5 (2023) |
Recurrent eosinophilic esophagitis in an adolescent patient |
Abstract
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R. F. Khakimova, A. A. Kamalova, Yu. M. Akhmatova, D. E. Tarasova, N. S. Poliakov, A. R. Khabibullina, A. G. Kuznetsova |
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| Vol 68, No 5 (2023) |
Dystrophic bullous epidermolysis in a newborn |
Abstract
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A. A. Babintseva, D. I. Sadykova, К. О. Zvegintseva |
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| Vol 68, No 5 (2023) |
Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy |
Abstract
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R. F. Rakhmaeva, G. I. Sageeva, N. A. Artykova, N. R. Mingacheva, N. M. Danilaeva, A. A. Kamalova |
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| Vol 68, No 5 (2023) |
Transient myelodysplastic syndrome in a newborn |
Abstract
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N. Kh. Gabitova, I. N. Cherezova, F. M. Kazakova, I. V. Osipova |
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| Vol 68, No 4 (2023) |
A case of successful treatment of an isolated tracheoesopha- geal fistula in a 2-month-old child |
Abstract
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R. V. Bocharov, V. G. Pogorelko, Yu. A. Kozlov |
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| Vol 68, No 4 (2023) |
Lingual thyroid ectopia |
Abstract
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I. S. Dolgopolov, A. A. Yusufov, E. G. Aleynik, M. Yu. Rykov |
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| Vol 68, No 4 (2023) |
Idiopathic paroxysmal atrioventricular block |
Abstract
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I. A. Kovalyov, V. M. Soloviov, E. R. Shabaeva, L. V. Egorov, S. A. Termosesov |
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| Vol 68, No 3 (2023) |
Cardiovascular system damage in the late-onset Pompe disease |
Abstract
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I. V. Leontieva, Yu. S. Isaeva, I. M. Miklashevich, S. A. Thermosesov |
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| Vol 68, No 2 (2023) |
Congenital methemoglobinemia and abnormal hemoglobin M variant in a newborn with cyanosis |
Abstract
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I. S. Dolgopolov, M. Yu. Rykov, A. A. Ryabtsev, S. Yu. Koltsova |
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| Vol 68, No 2 (2023) |
Barakat syndrome: clinical polymorphism of the disease |
Abstract
PDF (Rus)
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N. M. Zaikova, S. L. Morozov, S. E. Ryabova, V. V. Dlin |
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