Publications by authors named "Rachel Medina"

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Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.
Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy

Eur J Hum Genet· June 2017

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Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
Alix de Becdelièvre, Catherine Costa, Jean-Marie Jouannic, Annick LeFloch, Irina Giurgea

Hum Genet· April 2011

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