X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation
Milovidova, T.B., Schagina, O.A., Freire, M.V., Demina, N.A., Filatova, A.Y., Skoblov, M.Y., Stepanova, A.A., Chuhrova, A.L., Polyakov, A.V.
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Published in Journal of the European Academy of Dermatology and Venereology (01.12.2019)
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Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
Markova, T. V., Borovikov, A. O., Lozier, E. R., Isaev, A. A., Kaimonov, V. S., Pomerantseva, E. A., Konovalov, F. A., Schagina, O. A., Dadali, E. L.
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Published in Nervno-myshechnye bolezni (03.06.2020)
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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
Borovikov, A. O., Sharkova, I. V., Ryzhkova, O. P., Chukhrova, A. L., Schagina, O. A., Markova, T. V., Dadali, E. L.
Published in Nervno-myshechnye bolezni (24.04.2019)
Published in Nervno-myshechnye bolezni (24.04.2019)
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Khidiyatova, I. M., Skachkova, I. A., Saifullina, E. V., Magzhanov, R. V., Schagina, O. A., Zinchenko, R. A., Petrin, A. N., Khusnutdinova, E. K.
Published in Russian journal of genetics (01.07.2013)
Published in Russian journal of genetics (01.07.2013)
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Deletions in AZFc Region of Y Chromosome in Russian Fertile Men
Chernykh, V. B., Ryzhkova, O. P., Kuznetsova, I. A., Kazaryan, M. S., Sorokina, T. M., Kurilo, L. F., Schagina, O. A., Polyakov, A. V.
Published in Russian journal of genetics (01.07.2022)
Published in Russian journal of genetics (01.07.2022)
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Complex Molecular Diagnostics of Hemophilia A in Russian Patients
Beskorovainaya, T. S., Milovidova, T. B., Schagina, O. A., Ryzhkova, O. P., Polyakov, A. V.
Published in Russian journal of genetics (01.08.2019)
Published in Russian journal of genetics (01.08.2019)
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic
Khidiyatova, I M, Skachkova, I A, Saifullina, E V, Magzhanov, R V, Schagina, O A, Zinchenko, R A, Petrin, A N, Khusnutdinova, E K
Published in Genetika (01.07.2013)
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Published in Genetika (01.07.2013)
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Клинико-генетические характеристики ранней эпилептической энцефалопатии 66‑го типа (обзор литературы и собственное наблюдение)
Маркова, Т В, Боровиков, А О, Лозиер, E Р, Исаев, А А, Каймонов, В С, Померанцева, Е А, Коновалов, Ф А, Щагина, О А, Дадали, Е Л, Markova, T V, Borovikov, A O, Lozier, E R, Isaev, A A, Kaimonov, V S, Pomerantseva, E A, Konovalov, F A, Schagina, O A, Dadali, E L
Published in Nervno-myshechnye bolezni (01.01.2020)
Published in Nervno-myshechnye bolezni (01.01.2020)
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Клинико-генетические характеристики синдрома контрактур конечностей и лица, гипотонии и задержки психомоторного развития (OMIM:616 266), обусловленного мутациями в гене NALCN
Боровиков, А О, Шаркова, И В, Рыжкова, О П, Чухрова, А Л, Щагина, О А, Маркова, Т В, Дадали, Е Л, Borovikov, A O, Sharkova, I V, Ryzhkova, O P, Chukhrova, A L, Schagina, O A, Markova, T V, Dadali, E L
Published in Nervno-myshechnye bolezni (01.01.2019)
Published in Nervno-myshechnye bolezni (01.01.2019)
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