Genetic and Clinical Spectrum of GNE Myopathy in Russia

por Murtazina, Aysylu, Nikitin, Sergey, Rudenskaya, Galina, Sharkova, Inna, Borovikov, Artem, Sparber, Peter, Shchagina, Olga, Chukhrova, Alena, Ryzhkova, Oksana, Shatokhina, Olga, Orlova, Anna, Udalova, Vasilisa, Kanivets, Ilya, Korostelev, Sergey, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Publicado 2022

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Minzhenkova, Marina E., Markova, Zhanna G., Petrova, Nika V., Sukhanova, Natella V., Koshkin, Philipp A., Pyankov, Denis V., Kanivets, Ilya V., Korostelev, Sergey A., Krynskaya, Irina A., Shilova, Nadezhda V., Kutsev, Sergey I., Kadyshev, Vitaly V., Zinchenko, Rena A.
Publicado 2020