Torque teno virus dynamics during the first year of life
Tyschik, Elena A, Rasskazova, Anastasiya S, Degtyareva, Anna V, Rebrikov, Denis V, Sukhikh, Gennady T
Published in Virology journal (30.05.2018)
Published in Virology journal (30.05.2018)
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Journal Article
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation
Semenova, Natalia, Shatokhina, Olga, Shchagina, Olga, Kamenec, Elena, Marakhonov, Andrey, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana
Published in International journal of molecular sciences (01.04.2023)
Published in International journal of molecular sciences (01.04.2023)
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Journal Article
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease
Semenova, Natalia, Kamenets, Elena, Annenkova, Eleonora, Marakhonov, Andrey, Gusarova, Elena, Demina, Nina, Guseva, Daria, Anisimova, Inga, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana, Zakharova, Ekaterina
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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Journal Article
Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia
Degtyareva, Anna, Isaeva, Medan, Tumanova, Elena, Filippova, Elena, Sugak, Anna, Razumovsky, Alexander, Kulikova, Nadezhda, Albegova, Marina, Rebrikov, Denis
Published in Pediatric gastroenterology, hepatology & nutrition (01.07.2024)
Published in Pediatric gastroenterology, hepatology & nutrition (01.07.2024)
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Journal Article
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures
Kochetkova, Taisiya O, Maslennikov, Dmitry N, Tolmacheva, Ekaterina R, Shubina, Jekaterina, Bolshakova, Anna S, Suvorova, Dzhenneta I, Degtyareva, Anna V, Orlovskaya, Irina V, Kuznetsova, Maria V, Rachkova, Anastasia A, Sukhikh, Gennady T, Rebrikov, Denis V, Trofimov, Dmitriy Yu
Published in Genes (31.01.2023)
Published in Genes (31.01.2023)
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Journal Article
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
Degtyareva, Anna V, Proshlyakova, Tatiana Y, Gautier, Marina S, Degtyarev, Dmitry N, Kamenets, Elena A, Baydakova, Galina V, Rebrikov, Denis V, Zakharova, Ekaterina Y
Published in BMC medical genetics (11.07.2019)
Published in BMC medical genetics (11.07.2019)
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Journal Article
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns
Khalturina, Evgenia Olegovna, Degtyareva, Natalia Dmitrievna, Bairashevskaia, Anastasiia Vasi'evna, Mulenkova, Alena Valerievna, Degtyareva, Anna Vladimirovna
Published in Clinical and experimental pediatrics (01.10.2021)
Published in Clinical and experimental pediatrics (01.10.2021)
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Journal Article
Long-Term Effects of Kasai Portoenterostomy for Biliary Atresia Treatment in Russia
Degtyareva, Anna, Razumovskiy, Alexander, Kulikova, Nadezhda, Ratnikov, Sergey, Filippova, Elena, Gordeeva, Ekaterina, Albegova, Marina, Rebrikov, Denis, Puchkova, Anna
Published in Diagnostics (Basel) (11.09.2020)
Published in Diagnostics (Basel) (11.09.2020)
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Journal Article
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns
Khalturina, Evgenia Olegovna, Degtyareva, Natalia Dmitrievna, Bairashevskaia, Anastasiia Vasi'evna, Mulenkova, Alena Valerievna, Degtyareva, Anna Vladimirovna
Published in Clinical and experimental pediatrics (2021)
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Published in Clinical and experimental pediatrics (2021)
Journal Article
De Novo Variant in the IKCNJ9/I Gene as a Possible Cause of Neonatal Seizures
Kochetkova, Taisiya O, Maslennikov, Dmitry N, Tolmacheva, Ekaterina R, Shubina, Jekaterina, Bolshakova, Anna S, Suvorova, Dzhenneta I, Degtyareva, Anna V, Orlovskaya, Irina V, Kuznetsova, Maria V, Rachkova, Anastasia A, Sukhikh, Gennady T, Rebrikov, Denis V, Trofimov, Dmitriy Yu
Published in Genes (01.01.2023)
Published in Genes (01.01.2023)
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Journal Article
Metal vessels of the Bronze Age in Kazakhstan
Degtyareva, Anna D., Kuzminykh, Sergey V., Loman, Valeriy G., Kukushkin, Igor A., Kukushkin, Alexey I., Dmitriev, Evgeniy A.
Published in Journal of archaeological science, reports (01.12.2019)
Published in Journal of archaeological science, reports (01.12.2019)
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Journal Article
WES-based screening of 7,000 newborns: A pilot study in Russia
Shubina, Jekaterina, Tolmacheva, Ekaterina, Maslennikov, Dmitry, Kochetkova, Taisiya, Mukosey, Irina, Sadelov, Igor, Goltsov, Andrey, Barkov, Ilya, Ekimov, Aleksey, Rogacheva, Margarita, Stupko, Olga, Pavlova, Nadezhda, Kuznetsova, Maria, Dokshukina, Alina, Vasiliev, Grigory, Bolshakova, Anna, Kovalskaia, Valeriia, Korovko, Anastasia, Pomerantseva, Ekaterina, Tsabai, Polina, Buyanovskaya, Olga, Zaretskaya, Nadezhda, Karetnikova, Natalia, Grebenshchikova, Elena, Degtyareva, Anna, Bokerija, Ekaterina, Kholin, Alexey, Rebrikov, Denis, Degtyarev, Dmitry, Trofimov, Dmitriy, Sukhih, Gennady
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Journal Article
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Hendriksz, Christian J, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Chakrapani, Anupam, Corvol, Jean-Christophe, de Koning, Tom J, Degtyareva, Anna, Dionisi-Vici, Carlo, Doss, Sarah, Duning, Thomas, Giunti, Paola, Iodice, Rosa, Johnston, Tracy, Kelly, Dierdre, Klünemann, Hans-Hermann, Lorenzl, Stefan, Padovani, Alessandro, Pocovi, Miguel, Synofzik, Matthis, Terblanche, Alta, Then Bergh, Florian, Topçu, Meral, Tranchant, Christine, Walterfang, Mark, Velten, Christian, Kolb, Stefan A
Published in Current medical research and opinion (04.05.2017)
Published in Current medical research and opinion (04.05.2017)
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Journal Article
Metal of the Abashevo Culture from the Middle Don
Anna D. Degtyareva, Sergey V. Kuzminykh
Published in Arkheologii͡a︡ Evraziĭskikh stepeĭ (01.04.2022)
Published in Arkheologii͡a︡ Evraziĭskikh stepeĭ (01.04.2022)
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Journal Article
Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus
Degtyareva, Anna, Dokshukina, Alina, Filippova, Elena, Shubina, Jekaterina, Tolmacheva, Ekaterina, Sadelov, Igor, Albegova, Marina, Degtyarev, Dmitriy
Published in Current pediatric reviews (16.02.2024)
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Published in Current pediatric reviews (16.02.2024)
Journal Article
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
Semenova, Natalia, Shatokhina, Olga, Shchagina, Olga, Kamenec, Elena, Marakhonov, Andrey, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana
Published in International journal of molecular sciences (18.04.2023)
Published in International journal of molecular sciences (18.04.2023)
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Transient hyperinsulinism in neonates
Bolmasova, Anna V, Melikyan, Maria A, Krylova, Natalya A, Ionov, Oleg V, Ryumina, Irina I, Bockeria, Ekaterina L, Pekareva, Natalya A, Degtyareva, Anna V
Published in Problemy endokrinologii (26.09.2020)
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Published in Problemy endokrinologii (26.09.2020)
Journal Article
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures
Kochetkova, Taisiya O, Maslennikov, Dmitry N, Tolmacheva, Ekaterina R, Shubina, Jekaterina, Bolshakova, Anna S, Suvorova, Dzhenneta I, Degtyareva, Anna V, Orlovskaya, Irina V, Kuznetsova, Maria V, Rachkova, Anastasia A, Sukhikh, Gennady T, Rebrikov, Denis V, Trofimov, Dmitriy Yu
Published in Genes (31.01.2023)
Published in Genes (31.01.2023)
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