401 results on '"Kutsev S"'
Search Results
2. P030 Clinical and genetic characteristics of carriers of complex alleles of the CFTR gene
3. P024 Analysis of the effect of cytochrome P450 genes polymorphism on the efficacy and safety of CFTR modulator therapy in cystic fibrosis
4. P077 Adverse effects of CFTR modulator use in patients aged 2–18 with cystic fibrosis
5. P111 The role of the registry in planning targeted therapy and assessing its effectiveness and safety
6. Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene
7. Interdisciplinary approach to diagnosis of life-threatening form of albinism: Germanic-Pudlac syndrome case type 1
8. 5 P consortium “Children’s Medicine”
9. Diversity of Monogenic Hereditary Diseases in the Russian Population of the Volga-Ural Region
10. Bronchiectasis: literature review for preparation of 2024 clinical guidelines
11. DNA-based diagnostics of hereditary diseases of the respiratory tract
12. First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene
13. VEXAS syndrome: on the threshold of changing perceptions of known diseases
14. The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region
15. Noncanonical Functions of the Human Ribosomal Repeat
16. Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction
17. Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation
18. Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology
19. Efficacy of targeted therapy with lumacaftor/ivacaftor in children with cystic fibrosis (12-month follow-up)
20. Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic
21. Molecular-Genetic Study of Phenylketonuria in Patients from Georgia
22. Study of the Role of the Main Factors of Population Dynamics in the Mechanism of Differentiation and Formation of Diversity and Genetic Load of Hereditary Diseases in Subpopulations of the Karachay-Cherkess Republic
23. Consensus on the diagnosis and treatment of PROS (PIK3CA-related overgrowth spectrum). Russian version
24. P016 The effect of complex alleles p.[L467F;F508del] and p.[S466X;R1070Q] of the CFTR gene on the effectiveness of targeted therapy in patients with cystic fibrosis
25. P026 The DNA analysis of cystic fibrosis patients in the Russian Federation according to the National Patient Registry 2011–2021
26. Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene.
27. Efficacy of CFTR modulators in clinical practice (6-month follow-up)
28. Hereditary lung diseases and modern possibilities of genetic testing
29. Russian registry of patients with cystic fibrosis: lessons and perspectives
30. International experience in the primary prevention of cystic fibrosis (part one)
31. International experience in the primary prevention of cystic fibrosis (part two)
32. Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome
33. Compaction of hydroxyapatite nanopowders by hydrostatic pressing
34. Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness
35. Heat treatment-induced phase transformations of materials in a system of calcium phosphates and magnesium phosphates with (Ca + Mg)/P = 2
36. Modified composites of Al2O3–(Ce-TZP) system as materials for medical use
37. Physicochemical studies on the thermal hydrolysis of aluminum chloride
38. Reaction of Bauxite with Hydrochloric Acid Under Autoclave Conditions
39. Magnesium-substituted calcium phosphate cements with (Ca + Mg)/P = 2
40. Primary ciliary dyskinesia: review of the draft clinical guidelines, 2022
41. Adenomatous polyposis syndrome
42. P068 Characteristics of genetic variants of the CFTR gene in the Russian Federation according to the 2020 Registry
43. P004 Evaluation of the efficacy of newborn screening as a tool to identify cystic fibrosis in the Russian Federation
44. P047 Selection of CFTR modulators for children carrying the genetic variant W1282R
45. P067 The main characteristics of cystic fibrosis patients: National Patient Registry of Russia (RCFPR) 2020
46. Synthesis of different bismuth titanates and ordered Bi-Ti-O nanocomposites based on opal matrices
47. Ordered TiO2 · nH2O-based films and coatings
48. Genotoxicity of Single-Walled Carbon Nanotubes: In Vitro Study on Human Embryonic Fibroblast Cells
49. Ceramics in the system calcium phosphates-magnesium phosphates with (Ca + Mg)/P ≈ 2
50. Modern Approaches to the Management of Children with Atypical Hemolytic Uremic Syndrome
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