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2020
132 publication(s):
Note: when necessary, only the first 15 authors are displayed.
Workshop/conference papers
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Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS
- Sarah Snanoudj, Arnaud Molin, Cindy Colson, Nadia Coudray, Sylvie Paulien, Hervé Mittre, Marion Gérard, Elise Schaefer, Alice Goldenberg, Justine Bacchetta, Sylvie Odent, Sophie Naudion, Bénédicte Demeer, Laurence Faivre, Marie-Laure Kottler et al.
- 10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France.
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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
- A. Vitobello, F. Tran Mau-Them, A. L. Bruel, Y. Duffourd, E. Tisserant, P. Callier, S. Moutton, S. Nambot, D. Lehalle, N. Jean-Marcais, J. Delanne, C. Racine, J. Thevenon, C. Poe, T. Jouan et al.
- 53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66,
- DOI : https://doi.org/10.1038/s41431-020-00740-6
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