15 results on '"Jimenez Heredia, Raúl"'
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2. Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
3. Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
4. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
5. A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes
6. Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report
7. Classification of the States of Human Adaptive Immune Systems by Analyzing Immunoglobulin and T Cell Receptors Using ImmunExplorer
8. P21 - PITFALLS IN THE DIAGNOSTICS OF SAA/RCC: CAN WHOLE EXOME SEQUENCING LEAD US THE WAY?
9. Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report
10. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
11. Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
12. An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia
13. Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation
14. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
15. Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations
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