Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nadezhda Andreevna Pogodina"'
Autor:
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research, Vol 51 (2023)
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 ( AHI1 ), in
Externí odkaz:
https://doaj.org/article/cb3fbf99cefa4d37beaa01d6e0d4d25b
Autor:
Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research, Vol 50 (2022)
Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of peripheral neuropathies most of which are associated with mutations in four genes including peripheral myelin protein-22 ( PMP22) , myelin protein zero ( MPZ ), gap junctio
Externí odkaz:
https://doaj.org/article/811cc3bc9dd0483f85523d089e326669