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22 results on '"Fanen, Pascale"'

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1. Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France

2. Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis

3. Assessing Cardiac Amyloidosis Subtypes by Unsupervised Phenotype Clustering Analysis

4. Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

5. Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac Amyloidosis

6. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations

7. Les amyloses cardiaques : les reconnaître et les prendre en charge

10. COMMD1 modulates noxious inflammation in cystic fibrosis

11. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

14. Biochemical methods to assess CFTR expression and membrane localization

15. Antibodies for CFTR studies

17. Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combined in Cis and Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function

21. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

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