Zobrazeno 1 - 10
of 19
pro vyhledávání: '"P N, Kolbasin"'
Autor:
Yulia S. Koshevaya, Mariia E. Turkunova, Anastasia O. Vechkasova, Elena A. Serebryakova, Maxim Yu. Donnikov, Svyatoslav I. Papanov, Alexander N. Chernov, Lev N. Kolbasin, Lyudmila V. Kovalenko, Andrey S. Glotov, Oleg S. Glotov
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4106-4118 (2024)
Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by
Externí odkaz:
https://doaj.org/article/c9c348e41fe94a8ca1e5079e95152198
Autor:
L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko, L. D. Belotserkovtseva
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical
Externí odkaz:
https://doaj.org/article/9fbd6bc59e8541df8111164188ff9794
Autor:
R. S. Kalinin, O. V. Goleva, R. A. Illarionov, V. V. Tsai, A. L. Mukomolova, Yu. E. Konstantinova, I. V. Markin, A. V. Krylov, N. V. Rogozina, M. K. Bekhtereva, M. S. Tyan, E. D. Orlova, M. Yu. Donnikov, L. V. Kovalenko, L. N. Kolbasin, A. S. Glotov, O. S. Glotov
Publikováno v:
Кардиоваскулярная терапия и профилактика, Vol 21, Iss 11 (2022)
The formation of biobanks in the structure of scientific and treatment and diagnostic institutions with prospects for interregional integration is a fundamental link in monitoring and predicting diseases of various origins, creating and testing highl
Externí odkaz:
https://doaj.org/article/1daf9ab13a874fe68bdd2db0bd23a30e
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 2, Pp 43-49 (2019)
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of
Externí odkaz:
https://doaj.org/article/8201702c85ed42e8b8237c24b190c6e3
Publikováno v:
Klinicist, Vol 6, Iss 2, Pp 64-66 (2015)
The paper describes a familial case of Brugada syndrome type I (genetic variation Y87C) with autosomal-dominant inheritance.
Externí odkaz:
https://doaj.org/article/af07baae8ea5436f9c8670d8507ac0a6
Publikováno v:
Klinichna khirurhiia. (10)
More earlier break off of the disease clinical symptoms, laboratory indexes normalization, the shortening of the patients stationary treatment duration were promoted by trental and thiotriazolin inclusion in the acute pancreatitis complex of treatmen
Autor:
I I, Fomochkin, P N, Kolbasin
Publikováno v:
Klinichna khirurhiia. (3)
The lowering of activity of succinate dehydrogenase (SDH), alpha-glycerophosphate dehydrogenase (alpha GPDH), glucose-6-phosphate dehydrogenase (G-6-PDH), the raising of activity of lactate dehydrogenase (LDH) was noted in neutrophil granulocytes in
Autor:
P N, Kolbasin, S I, Shpak
Publikováno v:
Gigiena i sanitariia. (3)
Autor:
P N, Kolbasin
Publikováno v:
Gigiena i sanitariia. (7-8)
Autor:
P N, Kolbasin
Publikováno v:
Gigiena truda i professional'nye zabolevaniia. (7)
Cytochemical parameters of peripheral neutrophils were studied in the experimental pattern of combined action of chlorine and phosphorus containing organic pesticides and different levels of dynamic physical strain. Studies revealed the protective ef