Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients
Koshevaya, Yulia S, Turkunova, Mariia E, Vechkasova, Anastasia O, Serebryakova, Elena A, Donnikov, Maxim Yu, Papanov, Svyatoslav I, Chernov, Alexander N, Kolbasin, Lev N, Kovalenko, Lyudmila V, Glotov, Andrey S, Glotov, Oleg S
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Published in Current Issues in Molecular Biology (01.05.2024)
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Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
Turkunova, Mariia E, Barbitoff, Yury A, Serebryakova, Elena A, Polev, Dmitrii E, Berseneva, Olga S, Bashnina, Elena B, Baranov, Vladislav S, Glotov, Oleg S, Glotov, Andrey S
Published in Frontiers in genetics (18.05.2022)
Published in Frontiers in genetics (18.05.2022)
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Anamnestic, clinical, laboratory and molecular genetic characteristics of patients with neonatal diabetes mellitus
Ivanov, Dmitry O., Ditkovskaya, Liliya V., Maryina, Olga I., Alexandrovich, Yurii S., Turkunova, Mariia E., Suspitsin, Evgeny N.
Published in Pediatrician (St. Petersburg) (04.08.2024)
Published in Pediatrician (St. Petersburg) (04.08.2024)
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Congenital organic hyperinsulinism. Phenotype spectrum predetermined by ABCC8 gene variants
Ivanov, Dmitry O., Ditkovskaya, Liliya V., Maryina, Olga I., Turkunova, Mariia E., Suspitsin, Evgeny N., Prokhorovich, Tatyana I.
Published in Pediatrician (St. Petersburg) (23.11.2023)
Published in Pediatrician (St. Petersburg) (23.11.2023)
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Molecular genetic diagnosis and treatment of congenital hyperinsulinism: results of observation of patients with variants in the genes ABCC8 and KCNJ11
Ivanov, Dmitry O., Ditkovskaya, Liliya V., Maryina, Olga I., Turkunova, Mariia E., Suspitsin, Evgeny N., Yankovskaya, Olga S.
Published in Pediatrician (St. Petersburg) (19.09.2023)
Published in Pediatrician (St. Petersburg) (19.09.2023)
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Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes
Glotov, Oleg S, Serebryakova, Elena A, Turkunova, Mariia E, Efimova, Olga A, Glotov, Andrey S, Barbitoff, Yury A, Nasykhova, Yulia A, Predeus, Alexander V, Polev, Dmitrii E, Fedyakov, Mikhail A, Polyakova, Irina V, Ivashchenko, Tatyana E, Shved, Natalia Y, Shabanova, Elena S, Tiselko, Alena V, Romanova, Olga V, Sarana, Andrey M, Pendina, Anna A, Scherbak, Sergey G, Musina, Ekaterina V, Petrovskaia-Kaminskaia, Anastasiia V, Lonishin, Liubov R, Ditkovskaya, Liliya V, Zhelenina, Liudmila А, Tyrtova, Ludmila V, Berseneva, Olga S, Skitchenko, Rostislav K, Suspitsin, Evgenii N, Bashnina, Elena B, Baranov, Vladislav S
Published in Molecular medicine reports (01.12.2019)
Published in Molecular medicine reports (01.12.2019)
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Neonatal Diabetes Mellitus in the Structure of IPEX Syndrome
Turkunova, Mariia E, Ditkovskaya, Liliya V, Suspitsin, Evgenii N, Tyrtova, Ludmila V, Jelenina, Ludmila A, Guseva, Marina N
Published in Pediatrician (St. Petersburg) (15.03.2017)
Published in Pediatrician (St. Petersburg) (15.03.2017)
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