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По вашему запросу найдено документов: 348

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THE ASSOCIATION OF THE PTPN22 RS2476601 GENE POLYMORPHISM WITH JUVENILE IDIOPATHIC ARTHRITIS IN CHILDREN FROM RUSSIA

Nazarova, L.S., Danilko, K.V., Malievsky, V.A., Viktorova, T.V. (2017)

-nucleotide polymorphism (SNP) rs2476601 was shown to be associated with JIA in different populations, but according

SPECTRUM AND FREQUENCY OF THE GJB2 GENE PATHOGENIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH HEARING IMPAIRMENT LIVING IN A SUBARCTIC REGION OF RUSSIA (THE SAKHA REPUBLIC)

Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause

Breast cancer risk genes - Association analysis in more than 113,000 women

Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Luccarini, C., Wahlström, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Bermisheva, M., Khusnutdinova, E., Prokofyeva, D., other additional authors (2021)

. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated

ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN

Mustafin, R.N., Bermisheva, M.A., Karunas, A.S., Akhmetshin, A.A., Monakhova, A.S., Khusnutdinova, E.K. (2025)

method. To search for the pathogenic variants we found in publications by other authors, we analyzed

Rare Variants of the SMN1 Gene Detected during Neonatal Screening

Akhkiamova, Maria, Polyakov, Aleksander, Marakhonov, Andrey, Voronin, Sergey, Saifullina, Elena, Vafina, Zulfiia, Michalchuk, Kristina, Braslavskaya, Svetlana, Chukhrova, Alena, Ryadninskaya, Nina, Kutsev, Sergey, Shchagina, Olga (2024)

by the presence of either a c.835-18C>T intronic variant or a c.842G>C p.(Arg281Thr) missense variant in the SMN1

ANALYSIS OF PRIMARY DIAGNOSTICS OF HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN THE REPUBLIC OF BASHKORTOSTAN

Сайфуллина, Е.В., Магжанов, Р.В., Хидиятова, И.М., Хуснутдинова, Э.К., Saifullina, E.V., Magzhanov, R.V., Khidiiatova, I.M., Khusnutdinova, E.K. (2017)

genetically heterogenous and clinically polymorphic group of diseases which predominantly affect peripheral

Influence of motor activity and polymorphism I/D of ACE on the affinity of oxygen for hemoglobin

Dautova, Albina, Khazhieva, Evgenia, Isaeva, Ekaterina, Khabibulinna, Ilmira, Shamratova, Valentina (2023)

The influence of rs4646994 polymorphism of the ACE gene on the affinity of oxygen for hemoglobin

ASSOCIATION OF 22 POTENTIAL PATHOGENIC VARIANTS OF NEW CANDIDATE GENES AND THE RISK OF OVARIAN CANCER

Mingazheva, E.T., Prokofyeva, D.S., Valova, Ya.V., Andreeva, E.A., Nurgalieva, A.Kh., Valiev, R.R., Ekomasova, N.V., Faishanova, R.R., Romanova, A.R., Khusnutdinova, E.K. (2022)

2, CHEK2 and NBN genes, potentially pathogenic genetic variants in new breast and ovarian cancer

POLYMORPHISM OF FOLATE CYCLE GENES AS A RISK FACTOR OF HYPERHOMOCYSTEINEMIA

Ivanov, A.M., Gil'manov, A.Z., Malyutina, N.N., Khovaeva, Y.B., Nenasheva, O.Y., El'kin, G.I., Sosnin, D.Y. (2020)

was to estimate frequency of genetic polymorphisms (SNP) in folate cycle genes among people living in Perm region

ВЗАИМОСВЯЗЬ ПОЛИМОРФИЗМА ГЕНА ФАКТОРА НЕКРОЗА ОПУХОЛИ АЛЬФА С РАЗВИТИЕМ ГНОЙНО-СЕПТИЧЕСКИХ ОСЛОЖНЕНИЙ ТЯЖЕЛОГО ОСТРОГО ПАНКРЕАТИТА

Lutfarakhmanov, I.I. / Лутфарахманов И.И., Mironov, P.I. / Миронов П.И., Tikhonov, A.S. / Тихонов А.С. (2017)

The aim of study was to evaluate the relationship of tumor necrosis factor alpha gene polymorphism

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