М. А. Kurnikova
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology(RU)
Publications by Year
Research Areas
Immunodeficiency and Autoimmune Disorders, Platelet Disorders and Treatments, Blood disorders and treatments, Blood groups and transfusion, RNA modifications and cancer
Most-Cited Works
- → Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation(2015)31 cited
- → Individual characterization of stably expanded T cell clones in ankylosing spondylitis patients(2009)19 cited
- → De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond–Blackfan anemia(2022)13 cited
- → Four novel ELANE mutations in patients with congenital neutropenia(2011)9 cited
- → Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility(2023)7 cited
- → Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases(2021)6 cited
- → Identification of a novel mutation in DKC1 in dyskeratosis congenita(2008)4 cited
- → Cryopyrin-associated periodic syndrome assess the efficacy and safety of anakinra therapy: a single center experience(2022)3 cited
- → Update on the genetic landscape of Diamond‐Blackfan anemia in the Russian Federation(2020)3 cited
- → Mevalonate kinase deficiency syndrome: Single center experience(2021)2 cited