12 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. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
5. Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
6. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
7. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy
8. Erratum: Guidelines for diagnostic next-generation sequencing
9. Guidelines for diagnostic next-generation sequencing
10. PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome
11. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
12. Provision and quality assurance of preimplantation genetic diagnosis in Europe
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