Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ilya S. Zhanin"'
Autor:
Igor I. Yarmola, Anatoly V. Anikin, Dmitry A. Gankin, Lyubov E. Fomina, Natalia A. Kharitonova, Ilya S. Zhanin, Aleksandr A. Pushkov, Milana A. Basargina, Olga B. Kondakova
Publikováno v:
Digital Diagnostics, Vol 4, Iss 3, Pp 384-392 (2023)
Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other organs and systems. Magnetic resonance imaging stands as the primary method for visualizing
Externí odkaz:
https://doaj.org/article/dce3cc5e33cb4a77a8aee3366557ee59
Autor:
Olga A. Klochkova, Alexey L. Kurenkov, Natalya V. Zhurkova, Kirill V. Savostyanov, Ilya S. Zhanin, Ayaz M. Mamedyarov, Ilona M. Tardova
Publikováno v:
Вопросы современной педиатрии, Vol 16, Iss 4, Pp 326-333 (2017)
Autosomal recessive peripheral neuropathy with neuromyotonia (ARAN-NM) is a relatively newly described disease associated with mutations in the HINT1 gene. It accounts for a significant part of the poorly differentiated forms of axonal polyneuropathi
Externí odkaz:
https://doaj.org/article/1e08c8c623fc4af59ecbada229c00dea
Autor:
Lale A. Pak, Kirill V. Savostyanov, Lyudmila M. Kuzenkova, Alexander A. Pushkov, Ilya S. Zhanin, Eugeniya V. Uvakina
Publikováno v:
L.O. Badalyan Neurological Journal. 3:7-13
Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic tec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c85cbdf3d014429b2fa596c4d71ec06
https://doi.org/10.46563/2686-8997-2022-3-1-7-13
https://doi.org/10.46563/2686-8997-2022-3-1-7-13
Autor:
Kirill V. Savostyanov, Alexander A. Pushkov, Elena N. Basargina, Lyudmila M. Kuzenkova, Natalia N. Mazanova, Leila A. Gandaeva, Olga P. Zharova, Ekaterina E. Ryabova, Ilya S. Zhanin, Andrey P. Fisenko
Publikováno v:
L.O. Badalyan Neurological Journal. 2:203-215
Introduction. Pompe disease (PD) or type II glycogenosis is a rare multisystem hereditary accumulation disease caused by a deficiency of the enzyme acid maltase (acid alpha-1,4-glucosidase), which leads to reduced activity to the accumulation of glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef307812f6daef7acf817608b204858a
https://doi.org/10.46563/2686-8997-2021-2-4-203-215
https://doi.org/10.46563/2686-8997-2021-2-4-203-215
Autor:
Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 12976
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf61a62898f47eaa5ab9d0e5b673c08
https://doi.org/10.3390/ijms232112976
https://doi.org/10.3390/ijms232112976