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M.-P. Reboul

22

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WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

2020 Journal of Cystic Fibrosis
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CFTRgene variants:A predisposition factor to aquagenic palmoplantar keratoderma

2019 British Journal of Dermatology
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Novel ADGRG2 truncating variants in patients with X‐linked Congenital Absence of Vas Deferens

2019 Journal of Andrology
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P017 Update of CFTR-France: toward a more relevant dataset for predicting the impact of rare CFTR variants

2019 Journal of Cystic Fibrosis
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P019 Variants in the CFTR gene: a predisposition factor to aquagenic palmoplantar keratoderma

2019 Journal of Cystic Fibrosis
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WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification

2018 Journal of Cystic Fibrosis
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WS15.1 CysMA, a new tool for the interpretation of rare CFTR missense variants

2017 Journal of Cystic Fibrosis
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The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

2017 Clinical Case Reports
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8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible

2016 Journal of Cystic Fibrosis
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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

2012 Journal of Cystic Fibrosis
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