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Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis.
Published in:
Neoplasma, 2020, v. 67, n. 6, p. 1343, doi. 10.4149/neo_2020_191230N1351
By:
- TSUKANOV, A. S.;
- ZABNENKOVA, V. V.;
- SHUBIN, V. P.;
- PIKUNOV, D. Y.;
- SAVELYEVA, T. A.;
- KUZMINOV, A. M.;
- FROLOV, S. A.;
- POLYAKOV, A. V.;
- SHELYGIN, Y. A.
Publication type:
Article
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z
By:
- Marakhonov, Andrey V.;
- Efimova, Irina Yu.;
- Mukhina, Anna A.;
- Zinchenko, Rena A.;
- Balinova, Natalya V.;
- Rodina, Yulia;
- Pershin, Dmitry;
- Ryzhkova, Oxana P.;
- Orlova, Anna A.;
- Zabnenkova, Viktoriia V.;
- Cherevatova, Tatiana B.;
- Beskorovainaya, Tatiana S.;
- Shchagina, Olga A.;
- Polyakov, Alexander V.;
- Markova, Zhanna G.;
- Minzhenkova, Marina E.;
- Shilova, Nadezhda V.;
- Larin, Sergey S.;
- Khadzhieva, Maryam B.;
- Dudina, Ekaterina S.
Publication type:
Article
Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 918, doi. 10.1002/jimd.12142
By:
- Tsygankova, Polina G.;
- Itkis, Yulia S.;
- Krylova, Tatiana D.;
- Kurkina, Marina V.;
- Bychkov, Igor O.;
- Ilyushkina, Aleksandra A.;
- Zabnenkova, Viktoria V.;
- Mikhaylova, Svetlana V.;
- Pechatnikova, Natalia L.;
- Sheremet, Natalia L.;
- Zakharova, Ekaterina Y.
Publication type:
Article
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Published in:
Journal of International Advanced Otology, 2024, v. 20, n. 2, p. 119, doi. 10.5152/iao.2024.231252
By:
- Markova, Tatiana G.;
- Alekseeva, Natalia N.;
- Ryzhkova, Oxana P.;
- Shatokhina, Olga L.;
- Orlova, Anna A.;
- Zabnenkova, Viktoriia V.;
- Groznova, Olga S.;
- Sagaydak, Olesya V.;
- Chibisova, Svetlana S.;
- Polyakov, Alexander V.;
- Tavartkiladze, George A.
Publication type:
Article
Hemophilia B Leyden: Literature and Our Data.
Published in:
Russian Journal of Genetics, 2021, v. 57, n. 10, p. 1131, doi. 10.1134/S1022795421100033
By:
- Beskorovainaya, T. S.;
- Zabnenkova, V. V.;
- Zinchenko, R. A.;
- Shchagina, O. A.;
- Polyakov, A. V.
Publication type:
Article
HTT Gene Premutation Allele Frequencies in the Russian Federation.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 6, p. 732, doi. 10.1134/S1022795418060169
By:
- Zabnenkova, V.;
- Schagina, O. A.;
- Galeeva, N. M.;
- Kopishinskaya, S. V.;
- Polyakov, A. V.
Publication type:
Article
SMN1 gene point mutations in type I-IV proximal spinal muscular atrophy patients with a single copy of SMN1.
Published in:
Russian Journal of Genetics, 2015, v. 51, n. 9, p. 925, doi. 10.1134/S1022795415080128
By:
- Zabnenkova, V.;
- Dadali, E.;
- Artemieva, S.;
- Sharkova, I.;
- Rudenskaya, G.;
- Polyakov, A.
Publication type:
Article
Geneticl and clinical characteristics of 22q11.2 deletion syndrome.
Published in:
Russian Journal of Genetics, 2014, v. 50, n. 5, p. 528, doi. 10.1134/S1022795414050081
By:
- Kozlova, Yu.;
- Zabnenkova, V.;
- Shilova, N.;
- Min'zhenkova, M.;
- Antonenko, V.;
- Kotlukova, N.;
- Simonova, L.;
- Kazantseva, I.;
- Levchenko, E.;
- Bombardirova, T.;
- Zolotukhina, T.;
- Polyakov, A.
Publication type:
Article
Heterozygous carrier rate for type I-IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region.
Published in:
Russian Journal of Genetics, 2012, v. 48, n. 8, p. 838, doi. 10.1134/S1022795412080091
By:
- Zabnenkova, V.;
- Dadali, E.;
- Spiridonova, M.;
- Zinchenko, R.;
- Polyakov, A.
Publication type:
Article
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.
Published in:
Genes, 2022, v. 13, n. 12, p. 2186, doi. 10.3390/genes13122186
By:
- Kovalskaia, Valeriia A.;
- Zabnenkova, Victoriia V.;
- Petukhova, Marina S.;
- Markova, Zhanna G.;
- Tabakov, Vyacheslav Yu.;
- Ryzhkova, Oxana P.
Publication type:
Article

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