Marie‐Pierre Reboul

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges et al. · Human Mutation · 2017 · 91 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

A. Pagin, Anne Bergougnoux, Emmanuelle Girodon et al. · Andrology · 2019 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?

Sylvie Labrouche, Marie‐Pierre Reboul, V. Guérin et al. · PubMed · 2003 · 14 citations

Life Sciences, Genetics, Hematology +13

Protein C and protein S assessment in hospital laboratories

Sylvie Labrouche, Marie‐Pierre Reboul, V. Guérin et al. · Blood Coagulation & Fibrinolysis · 2003 · 13 citations

Life Sciences, Genetics, Hematology +15

Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

Ayman El-Seedy, Tony Dudognon, Frédéric Bilan et al. · Journal of Molecular Diagnostics · 2009 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13