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