20 results on '"Corveleyn, Anniek"'
Search Results
2. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
3. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
4. A Novel Kindred with MyD88 Deficiency
5. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
6. Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
7. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
8. Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
9. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
10. TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation
11. Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
12. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
13. Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
14. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation
15. Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to External Quality Assessment schemes for analyses focused on rare diseases
16. Guidelines for Genetic Testing and Management of Alport Syndrome
17. Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis
18. Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic
19. Guidelines for Genetic Testing and Management of Alport Syndrome
20. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated Central Nervous System Inflammation.
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