13 results on '"Corveleyn, Anniek"'
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2. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
3. A Novel Kindred with MyD88 Deficiency
4. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
5. Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
6. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
7. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
8. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
9. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
10. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
11. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy
12. PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome
13. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
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