Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
Semyachkina, A N, Voskoboeva, E Y, Zakharova, E Y, Nikolaeva, E A, Kanivets, I V, Kolotii, A D, Baydakova, G V, Kharabadze, M N, Kuramagomedova, R G, Melnikova, N V
Published in BMC medical genetics (02.05.2019)
Published in BMC medical genetics (02.05.2019)
Get full text
Journal Article
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology
Voskoboeva, E Yu, Bookina, T M, Semyachkina, A N, Mikhaylova, S V, Vashakmadze, N D, Baydakova, G V, Zakharova, E Yu, Kutsev, S I
Published in Frontiers in molecular biosciences (24.01.2022)
Published in Frontiers in molecular biosciences (24.01.2022)
Get full text
Journal Article
Red flags to diagnose infiltrative cardiomyopathies
Reznik, E. V., Nguyen, T. L., Ustyuzhanin, D. V., Semyachkina, A. N., Shkolnikova, M. A.
Published in Rossiĭskiĭ kardiologicheskiĭ zhurnal (01.03.2023)
Published in Rossiĭskiĭ kardiologicheskiĭ zhurnal (01.03.2023)
Get full text
Journal Article
Polymorphism of detoxification genes and cell resistance to mutagens in patients with Ehlers-Danlos syndrome
Kuz'mina, N S, Shipaeva, E V, Semyachkina, A N, Vasil'eva, I M, Kovalenko, L P, Durnev, A D, Zasukhina, G D
Published in Bulletin of experimental biology and medicine (01.11.2007)
Published in Bulletin of experimental biology and medicine (01.11.2007)
Get full text
Journal Article
Clinical and genetic characteristics of Russian Marfan patients
Semyachkina, A. N, Adyan, T. A, Kharabadze, M. N, Novikov, P. V, Polyakov, A. V
Published in Russian journal of genetics (01.07.2015)
Published in Russian journal of genetics (01.07.2015)
Get full text
Journal Article
Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease
Tsvetkova, I V, Karpova, E A, Voznyi, Y V, Zolotukhina, T V, Biryukov, V V, Semyachkina, A N
Published in Journal of inherited metabolic disease (01.03.1991)
Published in Journal of inherited metabolic disease (01.03.1991)
Get more information
Journal Article
Differential Activity of Superoxide Dismutase Inhibitor in Human Cells under the Action of Radiation, Chemical Mutagens, and upon Radioadaptive Response
Zasukhina, G. D., Vasilyeva, I. M., Alyokhina, N. I., Semyachkina, A. N.
Published in Russian journal of genetics (01.12.2003)
Published in Russian journal of genetics (01.12.2003)
Get full text
Journal Article
The peculiarities of polymorphism of XPD and XRCC1 repair genes in cells of down and Ehlers-Danlo syndrome patients characterized by increased radiosensitivity
Shagirova, Zh. M., Kurbatova, L. A., Shulenina, L. V., Semyachkina, A. N., Mikhailov, V. F., Zasukhina, G. D.
Published in Biophysics (Oxford) (01.10.2011)
Published in Biophysics (Oxford) (01.10.2011)
Get full text
Journal Article
Clinical and Genetic Characteristics of Russian Marfan Patients
Semyachkina, A N, Adyan, T A, Khabadze, M N, Novikov, P V, Polyakov, A V
Published in Genetika (01.07.2015)
Get more information
Published in Genetika (01.07.2015)
Journal Article