Search

Your search keyword '"Mersiyanova I"' showing total 27 results

Search Constraints

Start Over You searched for: Author "Mersiyanova I" Remove constraint Author: "Mersiyanova I"
27 results on '"Mersiyanova I"'

Search Results

1. Age-dependent changes in platelet function of a patient with SLFN14-related macrothrombocytopenia

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

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

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

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.

Catalog

Books, media, physical & digital resources