17 results on '"Cuppens H"'
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2. Recommendations for the classification of diseases as CFTR-related disorders
3. New clinical diagnostic procedures for cystic fibrosis in Europe
4. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
5. WS17.4 How organoid assay results concur with the clinical phenotype in an unusual patient with S1251N/G542X
6. WS17.2 Using a highly parallel sequencing assay for CFTR genotyping in ethnically diverse European patients with CF
7. ePS01.1 Asian patients with CF: Does ethnicity influence our diagnostic criteria?
8. WS3.2 Who is reported in the Belgian, Dutch and French CF registries?
9. 41* Who should be analyzed in a cystic fibrosis registry?
10. Towards fully quality-assured complete CFTR gene genetic tests
11. Complete sequencing of the CFTR gene using new generation GS-FLX sequencing technology
12. Molecular dissection of the MPB interacting site of CFTR
13. Sequence and MLPA analyses found CFTR mutations in all patients with classic CF
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. 17 The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in Cystic Fibrosis
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