Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

por Sparber, Peter, Mikhaylova, Svetlana, Galkina, Varvara, Itkis, Yulia, Skoblov, Mikhail
Publicado 2021

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

por Tsygankova, Polina, Bychkov, Igor, Minzhenkova, Marina, Pechatnikova, Natalia, Bessonova, Lyudmila, Buyanova, Galina, Naumchik, Irina, Beskorovainiy, Nikita, Tabakov, Vyacheslav, Itkis, Yulia, Shilova, Nadezhda, Zakharova, Ekaterina
Publicado 2022

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

por Kistol, Denis, Tsygankova, Polina, Krylova, Tatiana, Bychkov, Igor, Itkis, Yulia, Nikolaeva, Ekaterina, Mikhailova, Svetlana, Sumina, Maria, Pechatnikova, Natalia, Kurbatov, Sergey, Bostanova, Fatima, Migiaev, Ochir, Zakharova, Ekaterina
Publicado 2023

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants

por Kamenets, Elena A., Gusarova, Elena A., Milovanova, Natalia V., Itkis, Yulia S., Strokova, Tatiana V., Melikyan, Maria A., Garyaeva, Irina V., Rybkina, Irina G., Nikitina, Natalia V., Zakharova, Ekaterina Y.
Publicado 2020

BH(4)-deficient hyperphenylalaninemia in Russia

por Gundorova, Polina, Kuznetcova, Irina A., Baydakova, Galina V., Stepanova, Anna A., Itkis, Yulia S., Kakaulina, Victoria S., Alferova, Irina P., Lyazina, Lidya V., Andreeva, Lilya P., Kanivets, Ilya, Zakharova, Ekaterina Y., Kutsev, Sergey I., Polyakov, Aleksander V.
Publicado 2021

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022