Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl von Semyachkina, A N, Voskoboeva, E Y, Zakharova, E Y, Nikolaeva, E A, Kanivets, I V, Kolotii, A D, Baydakova, G V, Kharabadze, M N, Kuramagomedova, R G, Melnikova, N V

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Semi-Empirical Diffusional Model of Radionuclide Wash-Off from Contaminated Watersheds and Its Testing Using Monitoring Data for Fukushima and Chernobyl Rivers von Konoplev, A. V., Kanivets, V. I., Zhukova, O. M., Germenchuk, M. G., Derkach, G. A.

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SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold von Kievskaya, J K, Shilova, N V, Kanivets, I V, Kudryavtseva, E V, Pyankov, D V, Korostelev, S A

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Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia von Kondakova, O. B., Gudkova, A. P., Demyanov, S. V., Davydova, Yu. I., Lyalina, A. A., Grebenkin, D. I., Bakovich, E. A., Kanivets, I. V., Demyanov, D. S., Zhanin, I. S., Pushkov, A. A., Savostyanov, K. V.

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Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088) von Dadali, E. L., Mishina, I. A., Borovikov, A. O., Sharkov, A. A., Kanivets, I. V.

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Family case of aromatic L-amino acid decarboxylase deficiency von Kondakova, O. B., Kazakova, K. A., Lyalina, A. A., Lapshina, N. V., Pushkov, A. A., Mazanova, N. N., Davydova, Yu. I., Grebenkin, D. I., Kanivets, I. V., Savostyanov, K. V.

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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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Congenital cerebral palsy: genetic cause and nosological integrity von Sokolov, P. I., Chebanenko, N. V., Zykov, V. P., Kanivets, I. V., Prityko, A. G., Romanov, P. A.

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The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations von Kievskaya, J. K., Kanivets, I. V., Kudryavtseva, E. V., Pyankov, D. V., Korostelev, S. A.

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New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case) von Kozhanova, T. V., Zhilina, S. S., Mescheryakova, T. I., Shorina, M. Yu, Demenshin, I. F., Prokopiev, G. G., Kanivets, I. V., Suchorukov, V. S., Anufriev, P. L., Baranich, T. I., Kozina, A. A., Prityko, A. G.

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Genetic Aspects of Pathogenesis of Congenital Spastic Cerebral Paralysis von Prityko, A. G., Chebanenko, N. V., Sokolov, P. L., Zykov, V. P., Klimchuk, O. V., Kanivets, I. V.

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Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families von Mikhailova, S. V., Saifullina, E. V., Baranova, P. V., Vorontsova, V. P.  , Gribov, D.  I.  , Zhivihina, M.   V., Slatetskaya, A. N.  , Magzhanov, R.  V.  , Samokhvalov, V. A. ,  Virtseva, M.  N., Borscheva, L.     P.,  Koh, E.  E.,  Novikova, M.   V., Abrukova, A. V.  , Belyashova, E.     Yu, Gerasimenko, N.    Yu, Guseva, L.     V., Yukhimenko, Zh.     V., Nikitina, N.     V., Belyaeva, T.  I.  ,  Shkurko, T.   A.,  Pichkur, N.   A., Kakaulina, V.     S., Pechatnikova, N.   L., Polyakova, N .  A., Korostelev, S.    A., Pyankov, D.    V., Kanivets, I.   V.,  Demina, N.   A., Pyrkova, E.     Yu, Baidakova, G.     V., Kurkina, M.    V.,  Zakharova, E.   Yu

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Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population von Ivanova, M. E., Zolnikova, I. V., Khatsenko, I. E., Strelnikov, V. V., Konovalov, F. A., Lozier, E. R., Ampleeva, M. A., Antonets, A. V., Kanivets, I. V., Gorgisheli, K. V., Atarshchikov, D. S., Pyankov, D. V., Korostelev, S. A., Kuznetsova, E. B., Bar, D., Balashova, L. M., Salmasi, Zh. M.

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Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) von Dadali, E. I., Akimova, I. A., Semenova, N. A., Guseva, D. M., Shchagina, O. A., Chukhrova, A. I., Kanivets, I. V., Korostelev, S. A.

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HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES von Dadali, E. L., Sharkov, A. A., Sharkova, I. V., Kanivets, I. V., Konovalov, F. A., Akimova, I. A.

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CLINICAL EXOME SEQUENCING TO DETECT GENETICALLY DETERMINED DISEASES OF THE SKELETON von Kanivets, I V, Konovalov, F A, Korostelev, S A, Belova, N A, Katasonov, F S, Piankov, D V, Khmelkova, D N

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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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Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families von Mikhailova, S V, Saifullina, E V, Baranova, P V, Vorontsova, V P, Gribov, D I, Zhivihina, M V, Slatetskaya, A N, Magzhanov, R V, Samokhvalov, V A, Virtseva, M N, Borscheva, L P, Koh, E E, Novikova, M V, Abrukova, A V, E. Yu. Belyashova, N. Yu. Gerasimenko, Guseva, L V, Yukhimenko, Zh V, Nikitina, N V, Belyaeva, T I, Shkurko, T A, Pichkur, N A, Kakaulina, V S, Pechatnikova, N L, N . A. Polyakova, Korostelev, S A, Pyankov, D V, Kanivets, I V, Demina, N A, E. Yu. Pyrkova, Baidakova, G V, Kurkina, M V, E. Yu. Zakharova

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The study of the informativeness of the geometric facial parameters for the preliminary diagnosis of hereditary diseases von Kumov, V. S., Samorodov, A. V., Kanivets, I. V., Gorgisheli, K. V., Solonichenko, V. G.

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DNA copy number analysis of the DFNB1 hereditary hearing loss locus von Bliznetz, E. A., Kanivets, I. V., Polyakov, A. V.

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