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authIdHal_s : nicolas-gruchy

Cohorte française de 41 patients porteurs d’une délétion 2q37

Cindy Colson , Kara Ranguin , Nicolas Richard , Séverine Audebert-Bellanger , Marie-Noëlle Bonnet-Dupeyron et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-02436411v1

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

Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS

Sarah Snanoudj , Arnaud Molin , Cindy Colson , Nadia Coudray , Sylvie Paulien et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference papers hal-02436511v1
Image document

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