Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations
Ovsyannikova, Galina S., Fedorova, Daria V., Tesakov, Ivan P., Martyanov, Alexey A., Ignatova, Anastasia A., Ponomarenko, Evgeniya A., Zharkov, Pavel A., Pavlova, Anna V., Raykina, Elena V., Maschan, Michael A., Panteleev, Mikhail A., Novichkova, Galina A., Sveshnikova, Anastasia N., Smetanina, Nataliya S.
Published in Haematologica (Roma) (01.10.2022)
Published in Haematologica (Roma) (01.10.2022)
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Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia
Skorodumova, Liubov O., Davydenko, Ksenia A., Filatova, Alexandra Y., Skoblov, Mikhail Yu, Kulemin, Nikolay A., Khadzhieva, Maryam B., Zakharova, Elena S., Gordeeva, Veronika D., Smetanina, Nataliya S., Fedyushkina, Irina V., Anastasevich, Lyudmila A., Larin, Sergey S.
Published in Clinical genetics (01.01.2023)
Published in Clinical genetics (01.01.2023)
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Journal Article
Platelet function and blood coagulation system status in childhood essential thrombocythemia
Polokhov, Dmitrii M., Ershov, Nikolay M., Ignatova, Anastasia A., Ponomarenko, Evgeniya A., Gaskova, Marina V., Zharkov, Pavel A., Fedorova, Daria V., Poletaev, Alexandr V., Seregina, Elena A., Novichkova, Galina A., Smetanina, Nataliya S., Panteleev, Mikhail A.
Published in Platelets (Edinburgh) (16.11.2020)
Published in Platelets (Edinburgh) (16.11.2020)
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De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond–Blackfan anemia
Fedorova, Daria, Ovsyannikova, Galina, Kurnikova, Maria, Pavlova, Anna, Konyukhova, Tatiana, Pshonkin, Alexey, Smetanina, Nataliya
Published in Pediatric blood & cancer (01.04.2022)
Published in Pediatric blood & cancer (01.04.2022)
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Efficacy and safety of ruxolitinib in ineffective erythropoiesis suppression as a pretransplantation treatment for pediatric patients with beta‐thalassemia major
Ovsyannikova, Galina, Balashov, Dmitry, Demina, Irina, Shelikhova, Larisa, Pshonkin, Alexey, Maschan, Michael, Novichkova, Galina, Maschan, Alexey, Smetanina, Nataliya
Published in Pediatric blood & cancer (01.11.2021)
Published in Pediatric blood & cancer (01.11.2021)
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Journal Article
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs25
Demidova, Ekaterina, Salomashkina, Valentina, Selivanova, Daria, Litvin, Evgeny, Karamyan, Natalia, Mann, Svetlana, Dvirnyk, Valentina, Maryina, Salia, Petrova, Natal'ya, Gorgidze, Lana, Peredel'skaya, Anastasiya, Tsvetaeva, Nina, Smetanina, Nataliya, Surin, Vadim
Published in Hemoglobin (01.11.2023)
Published in Hemoglobin (01.11.2023)
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Journal Article
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs25
Demidova, Ekaterina, Salomashkina, Valentina, Selivanova, Daria, Litvin, Evgeny, Karamyan, Natalia, Mann, Svetlana, Dvirnyk, Valentina, Maryina, Salia, Petrova, Natal'ya, Gorgidze, Lana, Peredel'skaya, Anastasiya, Tsvetaeva, Nina, Smetanina, Nataliya, Surin, Vadim
Published in Hemoglobin (04.03.2023)
Published in Hemoglobin (04.03.2023)
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