Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

por Markova, Tatyana, Kenis, Vladimir, Melchenko, Evgeniy, Osipova, Darya, Nagornova, Tatyana, Orlova, Anna, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Publicado 2022

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

por Tyurin, Anton, Merkuryeva, Elena, Zaripova, Aliya, Markova, Tatyana, Nagornova, Tatyana, Dantsev, Ilya, Nadyrshina, Dina, Zakharova, Ekaterina, Khusainova, Rita
Publicado 2022

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

por Sharova, Margarita, Markova, Tatyana, Sumina, Maria, Petukhova, Marina, Bulakh, Maria, Ryzhkova, Oxana, Nagornova, Tatyana, Ionova, Sofya, Marakhonov, Andrey, Dadali, Elena, Kutsev, Sergey
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