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19 results on '"Kutsev S"'

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1. Diversity of Monogenic Hereditary Diseases in the Russian Population of the Volga-Ural Region.

2. The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region.

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5. P082 The National Cystic Fibrosis Patient Registry of the Russian Federation – 9 years of experience (2011–2019).

6. 20P - Matrix metalloproteinases and their tissue inhibitors genes abnormal DNA methylation in breast cancer.

7. P016 Novel CFTR genetic variants in cystic fibrosis patients from the Russian Federation (according to the Cystic Fibrosis Patients Register of the Russian Federation in 2017).

8. A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

9. Rare Variants of the SMN1 Gene Detected during Neonatal Screening.

10. A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

11. HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

12. Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.

13. Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

14. [The specialized medical care of children with rare diseases].

15. Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time.

16. [Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs].

17. Evolution of protease inhibitor resistance in the gag and pol genes of HIV subtype G isolates.

18. [Molecular diagnosis and frequencies of primary hypolactasia in populations of RUSSIA and neighboring countries].

19. QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe.