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LONG-QT SYNDROME-ASSOCIATED CAVEOLIN-3 MUTATIONS DIFFERENTIALLY REGULATE THE HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 4
Motloch, L.J., Larbig, R., Darabi, T., Reda, S., Motloch, K.A., Wernly, B., Lichtenauer, M., Gebing, T., Schwaiger, A., Zagidullin, N., Wolny, M., Hoppe, U.C. (2017)
Background Caveolin-3 (cav-3) mutations are linked to the long-QT syndrome (LQTS) causing distinct
MOLECULAR AND BIOCHEMICAL STUDY OF GLUTARIC ACIDURIA TYPE 1 IN 49 RUSSIAN FAMILIES: NINE NOVEL MUTATIONS IN THE GCDH GENE
KURKINA, M.V., MIHAYLOVA, S.V., BAIDAKOVA, G.V., SAIFULLINA, E.V., KOROSTELEV, S.A., PYANKOV, D.V., KANIVETS, I.V., YUNIN, M.A., PECHATNIKOVA, N.L., ZAKHAROVA, E.YU (2020)
) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene
PATHOPHYSIOLOGY OF CALCIUM MEDIATED VENTRICULAR ARRHYTHMIAS AND NOVEL THERAPEUTIC OPTIONS WITH FOCUS ON GENE THERAPY
Paar, V., Jirak, P., Larbig, R., Zagidullin, N.S., Brandt, M.C., Lichtenauer, M., Hoppe, U.C., Motloch, L.J. (2019)
Genetic mutations
SIGNALING PATHWAYS AND THERAPEUTIC APPROACHES IN GLIOBLASTOMA MULTIFORME (REVIEW)
KHABIBOV, M., GARIFULLIN, A., KHAMITOV, F., KHALIKOVA, L., BOUMBER, Y., KHADDOUR, K., FERNANDEZ, M., KUZNETSOVA, N., KIT, O., KHARIN, L. (2022)
mutations
OPINIONS OF HEARING PARENTS ABOUT THE CAUSES OF HEARING IMPAIRMENT OF THEIR CHILDREN WITH BIALLELIC GJB2 MUTATIONS
Solovyev, A.V., Dzhemileva, L.U., Posukh, O.L., Barashkov, N.A., Bady-Khoo, M.S., Lobov, S.L., Popova, N.Y., Romanov, G.P., Sazonov, N.N., Bondar, A.A., Morozov, I.V., Tomsky, M.I., Fedorova, S.A., Khusnutdinova, E.K. (2017)
Abstract Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent
EFFECTIVENESS AND SAFETY OF LONG-TERM TREATMENT WITH SULFONYLUREAS IN PATIENTS WITH NEONATAL DIABETES DUE TO KCNJ11 MUTATIONS: AN INTERNATIONAL COHORT STUDY
Neonatal Diabet Int Collaborative (2018)
Background KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP
ПОИСК ИЗМЕНЕНИЙ НУКЛЕОТИДНОЙ ПОСЛЕДОВАТЕЛЬНОСТИ ГЕНА РЕМОДЕЛИРОВАНИЯ ХРОМАТИНА PBRM1 У ПАЦИЕНТОВ СО СВЕТЛОКЛЕТОЧНЫМ РАКОМ ПОЧКИ
IDENTIFICATION OF ALTERATIONS IN THE NUCLEOTIDE SEQUENCE OF THE CHROMATIN REMODELING GENE PBRM1 IN CLEAR CELL RENAL CELL CARCINOMA PATIENTS
Klimentova E.A., Gilyazova I.R., Izmailov A.A., Sultanov I.M., Bermisheva M.A., V.N. Pavlov, Khusnutdinova E.K., КЛИМЕНТОВА, Е.А., ГИЛЯЗОВА, И.Р., ИЗМАЙЛОВ, А.А., СУЛТАНОВ, И.М., БЕРМИШЕВА, М.А., В.Н. Павлов, ХУСНУТДИНОВА, Э.К. (2018)
region near the von Hippel-Lindau gene (VHL), the mutation in which is the main event in the occurrence
ЧАСТОТА ГЕТЕРОЗИГОТНОГО НОСИТЕЛЬСТВА МУТАЦИЙ В ГЕНАХ NOTCH-СИГНАЛЬНОГО ПУТИ У ПАЦИЕНТОВ СО СВЕТЛОКЛЕТОЧНЫМ РАКОМ ПОЧКИ И В ПОПУЛЯЦИЯХ ВОЛГО-УРАЛЬСКОГО РЕГИОНА
Frequency of heterozygous carriage of mutations in the genes of Notch signal path in patients with clear cell kidney cancer and in the populations of the Volga-Ural region
Гилязова, И.Р., Иванова, Е.А., Измайлов, А.А., Султанов, И.Р., Сафиуллин, Р.И., Гилязова, Г.Р., Павлов, В.Н., Хуснутдинова, Э.К., Gilyazova, IR, Ivanova, EA, Izmaylov, AA, Sultanov, IR, Safiullin, RI, Gilyazova, GR, Pavlov, VN, Khusnutdinova, EK (2021)
Frequency of heterozygous carriage of mutations in the genes of Notch signal path in patients
ПРОГНОСТИЧЕСКОЕ ЗНАЧЕНИЕ ПОЛИМОРФНЫХ ВАРИАНТОВ ГЕНОВ CYP3A5 И HOCT1 У БОЛЬНЫХ ХРОНИЧЕСКИМ МИЕЛОЛЕЙКОЗОМ В РЕСПУБЛИКЕ БАШКОРТОСТАН
PROGNOSTIC VALUE OF CYP3A5 AND HOCT1 POLYMORPHIC GENE VARIANTS IN PATIENTS WITH CHRONIC MYELOID LEUKEMIA IN THE REPUBLIC OF BASHKORTOSTAN
САФУАНОВА, Г.Ш., РЯБЧИКОВА, Н.Р., ХУСНУТДИНОВА, Э.К., КАРИМОВ, Д.О., МИННИАХМЕТОВ, И.Р., Safuanova G. Sh., Ryabchikova N.R., Khusnutdinova E.K., Karimov D.O., Minniakhmetov I.R. (2019)
MUTATIONS
Взаимосвязь гена TP53 с ретроэлементами в канцерогенезе органов мочеполовой системы
Relationship of TP53 gene with retroelements in urogenital organs carcinogenesis
Mustafin, R.N., Мустафин, Р.Н. (2022)

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