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Your search keyword '"Cuppens H"' showing total 9 results

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9 results on '"Cuppens H"'

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1. New clinical diagnostic procedures for cystic fibrosis in Europe

2. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

3. Is there evidence for correct diagnosis in cystic fibrosis registries?

4. Recommendations for the classification of diseases as CFTR-related disorders.

5. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.

6. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

7. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.

8. Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.

9. A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis.

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