27 results on '"Mersiyanova I"'
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2. A case report of autoinflammation and PLCy2-associated antibody deficiency and immune dysregulation
3. Clinical characteristics of patients with the SAMD9/SAMD9L gene defects
4. The role of the reduction of extracellular calcium ion concentrations in activation of human peripheral blood T cells
5. Evans syndrome in children: the results of a retrospective study of 54 patients
6. Platelet phenotype in children with ANKRD26-related thrombocytopenia
7. Epstein–Barr virus-associated smooth muscle tumors in patients with primary immunodeficiencies
8. Development of flow cytometry assay for Wiskott–Aldrich syndrome diagnosis by WASP protein evaluation
9. Fisher-Evans Syndrome in Children: an Analysis of Genetic Defects and Therapy Response
10. The phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndrome
11. PS1483 IMPACT OF NEXT GENERATION SEQUENCING ON DIAGNOSIS OF INHERITED THROMBOCYTOPENIAS
12. THU0638 Clinical characteristic of a group of patients with pstpip1-associated myeloid-related proteinemia inflammatory syndrome (PAMI)
13. Civil society as an environment for production and Diffusion of social Innovation
14. A case of adrenal cortical adenoma in 14-year-old boy
15. Erratum: Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
16. Associations between insulin-dependent diabetes mellitus and HLA-DQA1 alleles
17. Sensomotor neuropathy with X-linked dominant inheritance
18. Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
19. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
20. Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
21. Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
22. Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
23. [The Role of Extracellular Calcium Ions Reduction in T Cell Activation in Human Peripheral Blood].
24. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
25. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
26. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
27. High frequency of HLA DQA1*0301 in Yakuts: no correlation with IDDM incidence.
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