Genotype–Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants

por Savostyanov, Kirill, Pushkov, Alexander, Zhanin, Ilya, Mazanova, Natalya, Pakhomov, Alexander, Trufanova, Elena, Alexeeva, Alina, Sladkov, Dmitry, Kuzenkova, Ludmila, Asanov, Aliy, Fisenko, Andrey
Publicado 2023

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children

por Savostyanov, Kirill, Murashkin, Nikolay, Pushkov, Alexander, Zhanin, Ilya, Suleymanov, Elkhan, Akhkiamova, Mariya, Shchagina, Olga, Balanovska, Elena, Epishev, Roman, Polyakov, Aleksander, Fisenko, Andrey
Publicado 2022

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study

por Alexeeva, Ekaterina, Shingarova, Meiri, Dvoryakovskaya, Tatyana, Lomakina, Olga, Fetisova, Anna, Isaeva, Ksenia, Chomakhidze, Aleksandra, Chibisova, Kristina, Krekhova, Elizaveta, Kozodaeva, Aleksandra, Savostyanov, Kirill, Pushkov, Aleksandr, Zhanin, Ilya, Demyanov, Dmitry, Suspitsin, Evgeny, Belozerov, Konstantin, Kostik, Mikhail
Publicado 2023

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population

por Glotov, Oleg S., Savostyanov, Kirill V., Nagornova, Tatyana S., Chernov, Alexandr N., Fedyakov, Mikhail A., Raspopova, Aleksandra N., Krasnoukhov, Konstantin N., Danilov, Lavrentii G., Moiseeva, Nadegda V., Kalinin, Roman S., Tsai, Victoria V., Eismont, Yuri A., Voinova, Victoria Y., Vitebskaya, Alisa V., Gurkina, Elena Y., Kuzenkova, Ludmila M., Sosnina, Irina B., Pushkov, Alexander A., Zhanin, Ilya S., Zakharova, Ekaterina Y.
Publicado 2022