Zobrazeno 1 - 2
of 2
pro vyhledávání: '"E. R. Lozier"'
Autor:
T. V. Markova, A. O. Borovikov, E. R. Lozier, A. A. Isaev, V. S. Kaimonov, E. A. Pomerantseva, F. A. Konovalov, O. A. Schagina, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 1, Pp 88-92 (2020)
Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygou
Externí odkaz:
https://doaj.org/article/067d3879698e4e9286daa9040edeb061
Autor:
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
Publikováno v:
Российский офтальмологический журнал, Vol 13, Iss 1, Pp 12-22 (2020)
Achromatopsia (ACHM) is a rare autosomal recessive disease. Its mutation spectrum is well described in other populations, but the data on ACHM prevalence and features in Russia are insufficient. Purpose. To describe clinically and genetically the Rus
Externí odkaz:
https://doaj.org/article/92260456696c478c91e15c42a02ce1d3