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| Issue |
Title |
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| Vol 15, No 7 (2016) |
GLUT1 deficiency syndrome (De Vivo disease): clinical and genetics aspects |
Abstract
PDF (Rus)
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, S. O. Aivazyan, K. V. Osipova, L. M. Suchko, E. G. Luk`yanova, A. G. Prityko |
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| Vol 15, No 7 (2016) |
Familial (1;2) reciprocal translocation: present-day diagnostic tools |
Abstract
PDF (Rus)
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Y. O. Kozlova, I. V. Kanivets, E. V. Musatova, N. V. Shilova |
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| Vol 15, No 7 (2016) |
Acute porphyria polyneuropathy and positive treatment effect glucose |
Abstract
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S. V. Kotov, O. P. Sidorov |
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| Vol 15, No 7 (2016) |
Genetic counselling by integrated preconception DNA testing expectant parents for reduce the risk of children monogenic diseases |
Abstract
PDF (Rus)
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M. V. Krechmar |
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| Vol 15, No 7 (2016) |
Case of campomelic dysplasia in the first trimester of pregnancy: ultrasound and pathological findings |
Abstract
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A. A. Lazarevich, I. V. Novikova |
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| Vol 15, No 7 (2016) |
Clinical case of sporadic spastic paraplegia with the novel mutation in the SPAST gene |
Abstract
PDF (Rus)
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A. F. Akhmetgaleyeva, I. M. Khidiyatova, E. V. Saifullina, R. F. Idrisova, R. V. Magzhanov, E. K. Khusnutdinova |
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| Vol 15, No 7 (2016) |
The clinical value of ATP7B sequencing in the diagnosis of Wilson`s disease |
Abstract
PDF (Rus)
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M. S. Balashova, O. V. Solov`eva, S. V. Fastovets, I. G. Tulusanovskaya, M. I. Filimonov, G. M. Bayazutdinova, N. A. Zhuchenko, T. M. Ignatova, A. Yu. Asanov |
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| Vol 15, No 7 (2016) |
Significance of molecular karyotyping for diagnosis specification in case of cytogenetically detected chromosomal aberrations |
Abstract
PDF (Rus)
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E. O. Belyaeva, A. A. Kashevarova, A. M. Nikonov, O. V. Plotnikova, N. A. Skryabin, L. P. Nazarenko, I. N. Lebedev |
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| Vol 15, No 7 (2016) |
Germline mutations in the DNA repair system genes in prostate cancer patients |
Abstract
PDF (Rus)
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I. R. Gilyazova, G. B. Kunsbaeva, M. A. Yankina, A. T. Mustafin, R. I. Safiullin, V. N. Pavlov, E. K. Khusnutdinova |
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| Vol 15, No 7 (2016) |
Estimation the load of monogenic hereditary pathology in Karachai of Karachay-Cherkessia in the era of new technologies in diagnostics |
Abstract
PDF (Rus)
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R. A. Zinchenko, A. Kh. Makaov, G. I. El`chinova, E. K. Ginter |
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