238 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. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
7. Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
8. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
9. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
10. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
11. Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
12. BCAP31-related syndrome: The first de novo report
13. 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)
14. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
15. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
16. Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation
17. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
18. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
19. Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
20. Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndrome
21. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
22. Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
23. TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation
24. Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
25. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy
26. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
27. PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome
28. Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
29. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation
30. 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
31. Guidelines for Genetic Testing and Management of Alport Syndrome
32. Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis
33. Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic
34. Guidelines for Genetic Testing and Management of Alport Syndrome
35. The Diagnostic Value of Next Generation Sequencing in Familial Nonsyndromic Congenital Heart Defects
36. Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
37. MEIS2 Involvement in Cardiac Development, Cleft Palate, and Intellectual Disability
38. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
39. CYSTIC DISEASE AND CILIOPATHIES
40. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers
41. Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated Central Nervous System Inflammation.
42. GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT
43. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
44. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
45. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
46. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers (Preprint)
47. Clinical characterization of the first Belgian SCN5A founder mutation cohort
48. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
49. Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
50. A double-edged sword
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