Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases by Yu. Yu. Kotalevskaya, N. M. Marycheva

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Molecular genetic basis of epidermolysis bullosa by Yu. Yu. Kotalevskaya, V. A. Stepanov

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A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5 by O. A. Solovova, N. V. Oparina, Yu. Yu. Kotalevskaya, S. G. Kalinenkova, A. Sh. Latypov

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ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT by Zh. Sh. Bagomedova, A. S. Kotov, M. N. Borisova, M. V. Panteleeva, N. V. Zhurkova, A. A. Byome, Yu. Yu. Kotalevskaya, O. S. Mironova, I. V. Razheva

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CARDIOMYOPATHY IN THE FRIEDREICH ATAXIA: CLINICAL PRESENTATION AND DIAGNOSTICS OF COMPLICATIONS by Е. I. Fomicheva, R. P. Myasnikov, Yu. A. Selivyorstov, Е. L. Dadali, Yu. Yu. Kotalevskaya, М. S. Kharlap, S. N. Koretsky, Е. P. Nuzhny, Е. А. Mershina, V. Е. Sinitsyn, А. N. Vernokhaeva, Е. V. Bazaeva, О. М. Drapkina, S. А. Boytsov

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