Found: 4

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  • Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1987, doi. 10.1002/ajmg.a.35441
    By:
    • Julliand, Sébastien;
    • Boulé, Michèle;
    • Baujat, Geneviève;
    • Ramirez, Adriana;
    • Couloigner, Vincent;
    • Beydon, Nicole;
    • Zerah, Michel;
    • di Rocco, Federico;
    • Lemerrer, Martine;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte
    Publication type:
    Article

  • Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy.

    Published in:
    Prenatal Diagnosis, 1994, v. 14, n. 2, p. 141, doi. 10.1002/pd.1970140210
    By:
    • Dumez, Yves;
    • Dommergues, Marc;
    • Gubler, Marie-Claire;
    • Bunduki, Victor;
    • Narcy, Francoise;
    • Lemerrer, Martine;
    • Mandelbrot, Laurent;
    • Berkowitz, Richard
    Publication type:
    Article

  • Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
    By:
    • Barthélémy, Florian;
    • Navarro, Claire;
    • Fayek, Racha;
    • Da Silva, Nathalie;
    • Roll, Patrice;
    • Sigaudy, Sabine;
    • Oshima, Junko;
    • Bonne, Gisèle;
    • Papadopoulou-Legbelou, Kyriaki;
    • Evangeliou, Athanasios E;
    • Spilioti, Martha;
    • Lemerrer, Martine;
    • Wevers, Ron A;
    • Morava, Eva;
    • Robaglia-Schlupp, Andrée;
    • Lévy, Nicolas;
    • Bartoli, Marc;
    • De Sandre-Giovannoli, Annachiara
    Publication type:
    Article

  • Nosology and classification of genetic skeletal disorders: 2010 revision.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 943, doi. 10.1002/ajmg.a.33909
    By:
    • Warman, Matthew L.;
    • Cormier-Daire, Valerie;
    • Hall, Christine;
    • Krakow, Deborah;
    • Lachman, Ralph;
    • LeMerrer, Martine;
    • Mortier, Geert;
    • Mundlos, Stefan;
    • Nishimura, Gen;
    • Rimoin, David L.;
    • Robertson, Stephen;
    • Savarirayan, Ravi;
    • Sillence, David;
    • Spranger, Juergen;
    • Unger, Sheila;
    • Zabel, Bernhard;
    • Superti-Furga, Andrea
    Publication type:
    Article