De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features von Lozier, Ekaterina R, Konovalov, Fedor A, Kanivets, Ilya V, Pyankov, Denis V, Koshkin, Philip A, Baleva, Larisa S, Sipyagina, Alla E, Yakusheva, Elena N, Kuchina, Anastasiya E, Korostelev, Sergey A

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Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease von Solis, Gonzalo P., Kozhanova, Tatyana V., Koval, Alexey, Zhilina, Svetlana S., Mescheryakova, Tatyana I., Abramov, Aleksandr A., Ishmuratov, Evgeny V., Bolshakova, Ekaterina S., Osipova, Karina V., Ayvazyan, Sergey O., Lebon, Sebastien, Kanivets, Ilya V., Pyankov, Denis V., Troccaz, Sabina, Silachev, Denis N., Zavadenko, Nikolay N., Prityko, Andrey G., Katanaev, Vladimir L.

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

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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene von Kurkina, Marina V., Mihaylova, Svetlana V., Baydakova, Galina V., Saifullina, Elena V., Korostelev, Sergey A., Pyankov, Denis V., Kanivets, Ilya V., Yunin, Maksim A., Pechatnikova, Natalya L., Zakharova, Ekaterina Y.

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Accurate fetal variant calling in the presence of maternal cell contamination von Nabieva, Elena, Sharma, Satyarth Mishra, Kapushev, Yermek, Garushyants, Sofya K., Fedotova, Anna, Moskalenko, Viktoria N., Serebrenikova, Tatyana E., Glazyrina, Eugene, Kanivets, Ilya, Pyankov, Denis, Neretina, Tatyana, Logacheva, Maria D., Bazykin, Georgii A., Yarotsky, Dmitry

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Variable clinic-EEG trajectories in male patients with PCDH19 clustering epilepsy von Dmitrenko, D. V., Sharkov, A. А., Domoratskaya, E. А., Usoltseva, A. А., Volkov, I. V., Pyankov, D. V.

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Investigation of somatic PIK3CA gene mutations in breast cancer patients von Pevzner, Alina M., Gaptulbarova, Ksenia A., Tsyganov, Matvey M., Ibragimova, Marina K., Vvedensky, Andrew V., Zhusina, Yulia G., Pyankov, Denis, Korostylev, Sergey A., Litviakov, Nikolai

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

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Enhancing the Immunogenicity of Vaccinia Virus von Shchelkunov, Sergei N, Yakubitskiy, Stanislav N, Sergeev, Alexander A, Starostina, Ekaterina V, Titova, Ksenia A, Pyankov, Stepan A, Shchelkunova, Galina A, Borgoyakova, Mariya B, Zadorozhny, Alexey M, Orlova, Lyubov A, Kisakov, Denis N, Karpenko, Larisa I

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Adaptive Immune Response to Vaccinia Virus LIVP Infection of BALB/c Mice and Protection against Lethal Reinfection with Cowpox Virus von Shchelkunov, Sergei N., Sergeev, Alexander A., Yakubitskiy, Stanislav N., Titova, Ksenia A., Pyankov, Stepan A., Kolosova, Irina V., Starostina, Ekaterina V., Borgoyakova, Mariya B., Zadorozhny, Alexey M., Kisakov, Denis N., Shulgina, Irina S., Karpenko, Larisa I.

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Comparison of the Effectiveness of Transepidemal and Intradermal Immunization of Mice with the Vacinia Virus von Shchelkunov, S N, Sergeev, A A, Titova, K A, Pyankov, S A, Starostina, E V, Borgoyakova, M B, Kisakova, L A, Kisakov, D N, Karpenko, L I, Yakubitskiy, S N

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