The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident by M. P. Safonova, A. E. Sipyagina, L. S. Baleva, I. V. Kanivets

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

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

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

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

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

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

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

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

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

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

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

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

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