Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

por Sharapova, Svetlana O., Pashchenko, Olga E., Bondarenko, Anastasiia V., Vakhlyarskaya, Svetlana S., Prokofjeva, Tatjana, Fedorova, Alina S., Savchak, Ihor, Mareika, Yuliya, Valiev, Timur T., Popa, Alexander, Tuzankina, Irina A., Vlasova, Elena V., Sakovich, Inga S., Polyakova, Ekaterina A., Rumiantseva, Natalia V., Naumchik, Irina V., Kulyova, Svetlana A., Aleshkevich, Svetlana N., Golovataya, Elena I., Minakovskaya, Nina V., Belevtsev, Mikhail V., Latysheva, Elena A., Latysheva, Tatiana V., Beznoshchenko, Alexander G., Akopyan, Hayane, Makukh, Halyna, Kozlova, Olena, Varabyou, Dzmitry S., Ballow, Mark, Ong, Mei-Sing, Walter, Jolan E., Kondratenko, Irina V., Kostyuchenko, Larysa V., Aleinikova, Olga V.
Publicado 2021

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

por Sharapova, Svetlana O., Skomska-Pawliszak, Małgorzata, Rodina, Yulia A., Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga E., Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avčin, Tadej, Markelj, Gašper, Ciznar, Peter, Kalwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, Naumova, Elissaveta, Kandilarova, Snezhina, Babol-Pokora, Katarzyna, Varabyou, Dzmitry S., Barendregt, Barbara H., Raykina, Elena V., Varlamova, Tatiana V., Pavlova, Anna V., Grombirikova, Hana, Debeljak, Maruša, Mersiyanova, Irina V., Bondarenko, Anastasiia V., Chernyshova, Liudmyla I., Kostyuchenko, Larysa V., Guseva, Marina N., Rascon, Jelena, Muleviciene, Audrone, Preiksaitiene, Egle, Geier, Christoph B., Leiss-Piller, Alexander, Yamazaki, Yasuhiro, Kawai, Tomoki, Walter, Jolan E., Kondratenko, Irina V., Šedivá, Anna, van der Burg, Mirjam, Kuzmenko, Natalia B., Notarangelo, Luigi D., Bernatowska, Ewa, Aleinikova, Olga V.
Publicado 2020