Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population von Markova, T.G., Alekseeva, N.N., Mironovich, O.L., Galeeva, N.M., Lalayants, M.R., Bliznetz, E.A., Chibisova, S.S., Polyakov, A.V., Tavartkiladze, G.A.

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Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene von Dadali, E. L., Borovikov, A. O., Shchagina, O. A., Mironovich, O. L.

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Diversity of VCP-related phenotypes: case report and literature review von Rudenskaya, G. E., Mironovich, O. L., Murtazina, A. F., Shchagina, O. A.

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Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene von Markova, T. V., Dadali, E. L., Nikitin, S. S., Murtazina, A.  F .,  Mironovich, O. L., Kanivets, I.  V.  

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Diagnostic utility of exome sequencing for inherited peripheral neuropathies von Shchagina, O. A., Ryzhkova, O. P., Chukhrova, A. L., Milovidova, T. V., Gundorova, P., Mironovich, O. L., Orlova, A. A., Orlova, M. D., Poliakov, A. V.

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Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report von Nikitin, S. S., Grigoryeva, V. N., Mashkovich, K. A., Mironovich, O. L., Ryadninskaya, N. V., Polyakov, A. V.

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Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the NRP2 Gene von Markova, T. V., Kenis, V. M., Mironovich, O. L., Shchagina, O. A., Nagornova, T. S., Melchenko, E. V., Dadali, E. L.

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Diversity of VCP-related phenotypes: case report and literature review von Rudenskaya, G E, Mironovich, O L, Murtazina, A F, Shchagina, O A

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Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene von Markova, T V, Dadali, E L, Nikitin, S S, A. F . Murtazina, Mironovich, O L, Kanivets, I V

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Polymorphism of CAG Repeats in Exon 1 of the Androgen Receptor Gene in Russian Men with Various Forms of Pathozoospermia von Melikyan, L. P., Bliznetz, E. A., Polyakov, A. V., Mironovich, O. L., Kuznetsova, I. A., Sorokina, T. M., Shtaut, M. I., Sedova, A. O., Kurilo, L. F., Solovova, O. A., Chernykh, V. B.

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Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome von Mironovich, O. L., Bliznetz, E. A., Markova, T. G., Alekseeva, N. N., Golybeva, T. I., Ryzhkova, O. P., Polyakov, A. V.

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Evaluation of clinical significance of с.2956G>A (rs112287730) polymorphism in FBN1 gene in Marfan syndrome von Mironovich, O. L., Adyan, T. A., Semyachkina, A. N., Rumyantseva, V. A., Rogozhina, Yu. A., Polyakov, A. V.

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Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders von Mironovich, O. L., Bliznetz, E. A., Markova, T. G., Geptner, E. N., Lalayants, M. R., Zelikovich, E. I., Tavartkiladze, G. A., Polyakov, A. V.

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Клинико-генетические характеристики синдрома Бош–Бунстра–Шаафа, обусловленного вновь выявленными мутациями в гене NR2F1... von Дадали, Е Л, Боровиков, А О, Щагина, О А, Миронович, О Л, Dadali, E L, Borovikov, A O, Shchagina, O A, Mironovich, O L

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Применение экзомного секвенирования для диагностики наследственных моторно-сенсорных нейропатий... von Щагина, О А, Рыжкова, О П, Чухрова, А Л, Миловидова, Т Б, Гундорова, П, Миронович, О Л, Орлова, А А, Орлова, М Д, Поляков, А В, Shchagina, O A, Ryzhkova, O P, Chukhrova, A L, Milovidova, T V, Gundorova, P, Mironovich, O L, Orlova, A A, Orlova, M D, Poliakov, A V

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Спинальная и бульбарная мышечная атрофия с псевдомиотоническим феноменом: описание клинического случая... von Никитин, С С, Григорьева, В Н, Машкович, К А, Миронович, О Л, Ряднинская, Н В, Поляков, А В, Nikitin, S S, Grigoryeva, V N, Mashkovich, K A, Mironovich, O L, Ryadninskaya, N V, Polyakov, A V

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Reduction and diazotization of ethyl 7-amino-3-tert-butyl-4-oxo-4,6-dihydropyrazolo[5,1-c][1,2,4]triazine-8-carboxylate von Mironovich, L. M., Ivanov, S. M., Chizhov, A. O., Daeva, E. D.

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NESTOR: a status report von Bottai, S., Anassontzis, E.G., Athanasopoulos, C., Barone, M., Grammatikakis, G., Katsanevas, S., Kourkoumelis, C., Manousakis-Katsikakis, A., Resvanis, L.K., Siotis, I., Sotiriou, S.A., Voulgaris, G., Minkowski, P., Grieder, P.K.F., Ball, A.E., Cartacci, A.M., Monteleoni, B., Naumov, V.A., Trasatti, L., Fahrun, E., Keusen, P., Koske, P., Rathlev, J., Schmidt, N.P., Voigt, G., Bezrukov, L.B., Butkevich, A.V., Dedenko, L.G., Karaevsky, S.K., Mironovich, A.A., Zakharov, L.M., Zheleznykh, I.M., Zhukov, V.A., Demidova, T.A., Shereme, A.O., Eremeev, A.P., Paka, V.T., Permyakov, A.A., Platonov, M.N., Rukol, V.Kh, Sheremet, N.A., Surin, N.M., Albul, V.I., Ledenev, V.V.

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