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Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Lucie Orhant , Olivia Anselem , Mélanie Fradin , Pierre Hadrien Becker , Caroline Beugnet et al.
Prenatal Diagnosis, 2016, 36 (5), pp.397-406. ⟨10.1002/pd.4790⟩
Journal articles hal-01272602v1

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt , Karine Poirier , Loic Broix , Nicolas Lebrun , Adrienne Elmorjani et al.
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
Journal articles hal-01313739v1