De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features
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
Published in Journal of human genetics (01.07.2018)
Published in Journal of human genetics (01.07.2018)
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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
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.
Published in Metabolic brain disease (01.08.2020)
Published in Metabolic brain disease (01.08.2020)
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Genetic and Clinical Spectrum of GNE Myopathy in Russia
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
Published in Genes (31.10.2022)
Published in Genes (31.10.2022)
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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
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
Published in BMC medical genomics (18.09.2020)
Published in BMC medical genomics (18.09.2020)
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Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia
Sparber, Peter, Krylova, Tatiana, Repina, Svetlana, Demina, Nina, Rudenskaya, Galina, Sharkova, Inna, Sharkov, Artem, Kadyshev, Vitaly, Kanivets, Ilya, Korostelev, Sergey, Pomerantseva, Ekaterina, Kaimonov, Vladimir, Mikhailova, Svetlana, Zakharova, Ekaterina, Skoblov, Mikhail
Published in Parkinsonism & related disorders (01.03.2021)
Published in Parkinsonism & related disorders (01.03.2021)
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The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
Borovikov, Artem, Galeeva, Nailya, Marakhonov, Andrey, Murtazina, Aysylu, Kadnikova, Varvara, Davydenko, Kseniya, Orlova, Anna, Sparber, Peter, Markova, Tatiana, Orlova, Maria, Osipova, Darya, Nagornova, Tatyana, Semenova, Natalia, Levchenko, Olga, Filatova, Alexandra, Sharova, Margarita, Vasiluev, Peter, Kanivets, Ilya, Pyankov, Denis, Sharkov, Artem, Udalova, Vasilisa, Kenis, Vladimir, Nikitina, Natalia, Sumina, Maria, Zherdev, Konstantin, Petel'guzov, Aleksandr, Chelpachenko, Oleg, Zubkov, Pavel, Dan, Ivan, Snetkov, Andrey, Akinshina, Alexandra, Buklemishev, Yury, Ryzhkova, Oxana, Tabakov, Vyacheslav, Zakharova, Ekaterina, Korostelev, Sergey, Zinchenko, Rena, Skoblov, Mikhail, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey, Shchagina, Olga
Published in Human mutation (12.02.2024)
Published in Human mutation (12.02.2024)
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Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome
Filatova, Alexandra, Freire, Valeria, Lozier, Ekaterina, Konovalov, Fedor, Bessonova, Ludmila, Iudina, Elena, Gnetetskaya, Valentina, Kanivets, Ilya, Korostelev, Sergey, Skoblov, Mikhail
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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DNA copy number variations of blood lymphocytes in people exposed to occupational irradiation as a possible marker of high radiosensitivity
Litviakov, Nikolai V, Khalyuzova, Maria V., Takhauov, Ravil M., Sazonov, Aleksey E., Isubakova, Daria S., Bronikovskaya, Evgenia V., Albakh, Еlena N., Bolshakov, Michael A., Korostelev, Sergey A., Karpov, Аndrey B.
Published in Vestnik Tomskogo gosudarstvennogo universiteta. Biologiya (01.06.2015)
Published in Vestnik Tomskogo gosudarstvennogo universiteta. Biologiya (01.06.2015)
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PARAMETER-BASED VERSIONING FOR LOG-BASED BLOCK DEVICES
ILCZUK, Justyna, SARKER, Anik, KOROSTELEV, Sergey, BHATIA, Sandeep, ARKHAROV, Andrey, KADATCH, Andrew
Year of Publication 11.07.2024
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Year of Publication 11.07.2024
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Parameter-Based Versioning For Log-Based Block Devices
Arkharov, Andrey, Ilczuk, Justyna, Sarker, Anik, Bhatia, Sandeep, Korostelev, Sergey, Kadatch, Andrew
Year of Publication 13.06.2024
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Year of Publication 13.06.2024
Patent
PARAMETER-BASED VERSIONING FOR LOG-BASED BLOCK DEVICES
ILCZUK, Justyna, SARKER, Anik, KOROSTELEV, Sergey, BHATIA, Sandeep, ARKHAROV, Andrey, KADATCH, Andrew
Year of Publication 13.06.2024
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Year of Publication 13.06.2024
Patent