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Your search keyword '"Corveleyn, Anniek"' showing total 20 results

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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

5. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

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

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

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