Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes von Panova, Alexandra V, Klementieva, Natalia V, Sycheva, Anna V, Korobko, Elena V, Sosnovtseva, Anastasia O, Krasnova, Tatiana S, Karpova, Maria R, Rubtsov, Petr M, Tikhonovich, Yulia V, Tiulpakov, Anatoly N, Kiselev, Sergey L

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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation von Kovalskaia, Valeriia A, Kungurtseva, Anastasiia L, Bostanova, Fatima M, Vasiliev, Peter A, Tabakov, Vyacheslav Y, Orlova, Mariia D, Povolotskaya, Inna S, Novoselova, Olga G, Bikanov, Roman A, Akhyamova, Mariia A, Tikhonovich, Yulia V, Popovich, Anastasiia V, Vitebskaya, Alisa V, Dadali, Elena L, Ryzhkova, Oxana P

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Diagnostic value of islet autoantibody assays practised in Russia. 1. Classic immunofluorescence islet cell antibody assay, immunoradiometric glutamic acid decarboxylase antibody a... von Timofeev, Alexei V., Gorst, Ksenia A., Uvarov, Valentin Y., Pronina, Ekaterina A., Vitebskaya, Alisa V., Popovich, Anastasiya V., Tiulpakov, Anatoliy N., Zubkova, Natalia A., Gioeva, Olesya A., Tikhonovich, Yulia V., Ilin, Alexander V., Latyshev, Oleg Y., Okminjan, Goar F., Kabolova, Ksenia L., Kanokova, Julianna A., Zhuleva, Leokadia Y., Koltunov, Igor E., Petriaikina, Elena E., Rybkina, Irina G., Garyaeva, Irina V., Guguchia, Salome L., Shimarova, Angelina B., Bullikh, Artiom V., Kolomina, Irina G., Evsyukova, Evgenia A., Bukin, Sergei S., Egarmina, Natalia N., Arbatskaya, Natalia Y., Yanovskaya, Elina Y., Popenko, Vladimir I., Arkhipkin, Alexander A.

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Pediatric Multisystem Inflammatory Syndrome in a Patient with a Coma with a Hyperosmolar Component in the Manifestation of Type 1 Diabetes Mellitus: Clinical Case von Anastasia N. Lazareva, Yulia V. Tikhonovich, Alexey Yu. Rtishchev, Inna G. Vorontsova, Irina G. Rybkina, Elena E. Petryaykina

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Description of the first genetically confirming case with Donahue’s syndrome in Russia von Tikhonovich, Yulia V., Malievsky, Oleg A., Tyul'pakov, Anatoly

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Clinical and molecular genetic characteristics of MODY1—3 cases in the Russian Federation as shown by NGS von Zubkova, Natalya A., Gioeva, Olesya A., Tikhonovich, Yulia V., Petrov, Vasily M., Vasilyev, Evgeny V., Timofeev, Alexei V., Tiulpakov, Anatoly N.

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IDIOPATHIC INFANTILE HYPERCALCEMIA . DESCRIPTION OF CLINICAL CASES AND REVIEW von Tikhonovich, Yulia V., Kolodkina, Anna A., Kulikova, Kristina S., Golubkina, Yulia Yu, Kalinchenko, Natalia Yu, Savelieva, Larisa V., Kostik, Mikhail M., Rozhinskaya, Ludmila Y., Tiulpakov, Anatoly N.

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IDIOPATHIC INFANTILE HYPERCALCEMIA . DESCRIPTION OF CLINICAL CASES AND REVIEW von Tikhonovich, Yulia V., Kolodkina, Anna A., Kulikova, Kristina S., Golubkina, Yulia Yu, Kalinchenko, Natalia Yu, Savelieva, Larisa V., Kostik, Mikhail M., Rozhinskaya, Ludmila Y., Tiulpakov, Anatoly N.

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Clinical and molecular genetic characteristics of MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing von Gioeva, Olesya A., Zubkova, Natalya A., Tikhonovich, Yulia V., Petrov, Vasiliy M., Vasilyev, Evgeniy V., Kiyaev, Alexey V., Chernich, Lyudmila G., Pollyak, Olga Y., Yusupova, Albina R., Tiulpakov, Anatoly N.

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Diagnostic value of islet autoantibody assays practised in Russia. 1. Classic immunofluorescence islet cell antibody assay, immunoradiometric glutamic acid decarboxylase antibody a... von Timofeev, Alexei V., Gorst, Ksenia A., Uvarov, Valentin Y., Pronina, Ekaterina A., Vitebskaya, Alisa V., Popovich, Anastasiya V., Tiulpakov, Anatoliy N., Zubkova, Natalia A., Gioeva, Olesya A., Tikhonovich, Yulia V., Ilin, Alexander V., Latyshev, Oleg Y., Okminjan, Goar F., Kabolova, Ksenia L., Kanokova, Julianna A., Zhuleva, Leokadia Y., Koltunov, Igor E., Petriaikina, Elena E., Rybkina, Irina G., Garyaeva, Irina V., Guguchia, Salome L., Shimarova, Angelina B., Bullikh, Artiom V., Kolomina, Irina G., Evsyukova, Evgenia A., Bukin, Sergei S., Egarmina, Natalia N., Arbatskaya, Natalia Y., Yanovskaya, Elina Y., Popenko, Vladimir I., Arkhipkin, Alexander A.

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Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome) von Tikhonovich, Yu. V., Chernich, L. G., Velikanov, I. N., Polyakova, V. M., Vasilyev, E. V., Petrov, V. M., Shreder, E. V., Glavatskich, Е. V., Tyulpakov, A. N.

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Clinical, hormonal and molecular-genetic characteristics of monogenic diabetes mellitus associated with the mutations in the INS gene von Tikhonovich, Yu. V., Petryaykina, E. E., Timofeev, A. V., Zubkova, N. A., Kolodkina, A. A., Sorkina, E. L., Vasiliev, E. V., Petrov, V. M., Andrianova, E. A., Zilberman, L. I., Svetlova, G. N., Кalinin, A. L., Rubtsov, P. M., Кiselev, S. L., Panova, A. V., Shreder, E. V., Krasnova, T. S., Kulieva, B. P., Gariaeva, I. V., Rybkina, I. G., Malievskiy, O. A., Tyulpakov, A. N.

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