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authFullName_s : Nathalie Leporrier

Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study

Marie-Agnès Collonge-Rame , Philippe Vago , Mylène Valduga , Nathalie Leporrier , François Vialard et al.
Prenatal Diagnosis, 2016, 36 (6), pp.523-529. ⟨10.1002/pd.4817⟩
Journal articles istex hal-01295644v1

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Mathilde Lefebvre , Anne Dieux-Coeslier , Geneviève Baujat , Elise Schaefer , Saint-Onge Judith et al.
Journal of Medical Genetics, 2018, 55 (6), pp.422-429. ⟨10.1136/jmedgenet-2017-104939⟩
Journal articles hal-02012240v1
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Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

Nicolas Gruchy , Nicolas Bigot , C. Jeanne Pasquier , Marie-Hélène Read , Sylvie Odent et al.
Molecular Genetics and Metabolism, 2014, 112 (2), pp.177-82. ⟨10.1016/j.ymgme.2014.03.009⟩
Journal articles hal-01021803v1