A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

by Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Published 2016-08-01

Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene

by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko
Published 2021-04-01

Aicardi–Goutieres syndrome in children with idiopathic epilepsy

by N. O. Bryukhanova, S. S. Zhilina, S. O. Aivazyan, T. V. Ananieva, M. S. Belenikin, T. V. Kozhanova, T. I. Meshcheryakova, R. A. Zinchenko, G. R. Mutovin, N. N. Zavadenko
Published 2016-04-01

An allelic variant of congenital Salih myopathy

by M. S. Belenikin, S. S. Zhilina, A. A. Barinov, M. Yu. Shоrina, N. O. Bryukhanova, R. M. Magomedova, T. I. Meshcheryakova, A. N. Petrin, I. A. Demidova, G. G. Prokopiev, G. R. Mutovin, A. G. Prityko
Published 2016-03-01