19 results on '"CUPPENS H"'
Search Results
2. WS17.2 Using a highly parallel sequencing assay for CFTR genotyping in ethnically diverse European patients with CF
3. ePS01.1 Asian patients with CF: Does ethnicity influence our diagnostic criteria?
4. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis
5. WS3.2 Who is reported in the Belgian, Dutch and French CF registries?
6. Recommendations for the classification of diseases as CFTR-related disorders
7. 41* Who should be analyzed in a cystic fibrosis registry?
8. New clinical diagnostic procedures for cystic fibrosis in Europe
9. Towards fully quality-assured complete CFTR gene genetic tests
10. Complete sequencing of the CFTR gene using new generation GS-FLX sequencing technology
11. Molecular dissection of the MPB interacting site of CFTR
12. Sequence and MLPA analyses found CFTR mutations in all patients with classic CF
13. 115: A High Diploid DEFA1A3 Copy Number Predispose to Lung Transplant Rejection
14. EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING
15. The β-defensin region affects CF lung disease severity
16. ENaC mutations in patients with CF-like disease
17. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
18. 17 The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in Cystic Fibrosis
19. Identification of polysaccharides in pharmaceuticals by capillary gas chromatography
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