Found: 3

Select item for more details and to access through your institution.

  • Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

    Published in:
    2019
    By:
    • Guterman, Sarah;
    • Beneteau, Claire;
    • Redon, Sylvia;
    • Dupont, Céline;
    • Missirian, Chantal;
    • Jaeger, Pauline;
    • Herve, Berenice;
    • Jacquin, Clémence;
    • Douet‐Guilbert, Nathalie;
    • Till, Marianne;
    • Tabet, Anne‐Claude;
    • Moradkhani, Kamran;
    • Malan, Valérie;
    • Doco‐Fenzy, Martine;
    • Vialard, François;
    • Douet-Guilbert, Nathalie;
    • Tabet, Anne-Claude;
    • Doco-Fenzy, Martine
    Publication type:
    journal article

  • 3q29 duplications: A cohort of 46 patients and a literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
    By:
    • Massier, Marie;
    • Doco‐Fenzy, Martine;
    • Egloff, Matthieu;
    • Le Guillou, Xavier;
    • Le Guyader, Gwenaël;
    • Redon, Sylvia;
    • Benech, Caroline;
    • Le Millier, Karine;
    • Uguen, Kevin;
    • Ropars, Juliette;
    • Sacaze, Elise;
    • Audebert‐Bellanger, Séverine;
    • Apetrei, Andreea;
    • Molin, Arnaud;
    • Gruchy, Nicolas;
    • Vincent‐Devulder, Aline;
    • Spodenkiewicz, Marta;
    • Jacquin, Clémence;
    • Loron, Gauthier;
    • Thibaud, Marie
    Publication type:
    Article

  • 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
    By:
    • Jacquin, Clémence;
    • Landais, Emilie;
    • Poirsier, Céline;
    • Afenjar, Alexandra;
    • Akhavi, Ahmad;
    • Bednarek, Nathalie;
    • Bénech, Caroline;
    • Bonnard, Adeline;
    • Bosquet, Damien;
    • Burglen, Lydie;
    • Callier, Patrick;
    • Chantot‐Bastaraud, Sandra;
    • Coubes, Christine;
    • Coutton, Charles;
    • Delobel, Bruno;
    • Descharmes, Margaux;
    • Dupont, Jean‐Michel;
    • Gatinois, Vincent;
    • Gruchy, Nicolas;
    • Guterman, Sarah
    Publication type:
    Article