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| Issue |
Title |
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| Vol 14, No 10 (2015) |
Clinical case of the new mutation in the GDAP1 gene in the family with hereditary motor-sensory neuropathy 2K |
Abstract
PDF (Rus)
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E. V. Saifullina, I. M. Khidiyatova, R. V. Magzhanov, I. A. Skachkova, E. K. Khusnutdinova |
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| Vol 14, No 11 (2015) |
Rare chromosomal imbalance in the fetus: the experience of the application of array comparative genomic hybridization (aCGH) (clinical case) |
Abstract
PDF (Rus)
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N. A. Karetnikova, A. N. Ekimov, E. E. Baranova, V. A. Bakharev, D. Yu. Trofimov, A. I. Gus |
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| Vol 14, No 11 (2015) |
Description of a clinical case 16p13.3 microdeletion with manifestations of alpha-thalassemia-mental retardation syndrome, identified during the chromosomal microarray (CMA) testing |
Abstract
PDF (Rus)
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I. V. Anisimova, I. V. Kanivets |
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| Vol 14, No 12 (2015) |
GM2 gangliosidosis in adults: first Russian case report and literature review |
Abstract
PDF (Rus)
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G. E. Rudenskaya, A. M. Bukina, T. M. Bukina, S. N. Illarioshkin, S. A. Kluyshnikov, E. Yu. Voskoboeva, E. Yu. Zakharova |
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