Zobrazeno 1 - 2
of 2
pro vyhledávání: '"S. Steinwall Larsen"'
Autor:
Bertrand Isidor, Christine Francannet, D. Li, Samuel W. Baker, Gaëlle Vieville, Martine Doco-Fenzy, David Geneviève, I. Giurgea, Anna Gréen, Emily Fassi, Caroline Nava, Roseline Caumes, C. Fournier, Alexandra Afenjar, Françoise Devillard, Yuri A. Zarate, Damien Sanlaville, Michael Field, Elisabetta Lapi, Sandra Whalen, Emma Bedoukian, Alice Goldenberg, S. Steinwall Larsen, Jamal Ghoumid, Marjolaine Willems, M. Wenzel, Isabelle Marey, Sylvie Picker-Minh, Thomas Smol, Anne-Marie Guerrot, Dominique Bonneau, Gaetan Lesca, Delphine Héron, Elizabeth J. Bhoj, Véronique Satre, Sylvie Manouvrier-Hanu, Christine Coubes, Alain Verloes, Margarita Stefanova, Gaël Nicolas, Amélie Piton, Odile Boute-Benejean, Laurence Faivre, Caroline Thuillier, Bénédicte Gérard, Nicolas Chatron, Florence Petit, Beth Keena, Elise Boudry-Labis, C. Colson, Sonia Bouquillon, Avni Santani, Boris Keren, Lisa Ewans, Tony Roscioli, N. Le Meur, Paul Kuentz, Bryan L. Krock, Catherine Roche-Lestienne, Anne Dieux-Coeslier, Alban Ziegler, Pascale Saugier-Veber, Cyril Mignot, Vera M. Kalscheuer, Addie I. Nesbitt, Charles Coutton
Publikováno v:
neurogenetics
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
IF 3.269; International audience; Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26742ebefa31c9d6ec26971054a8e524
https://hal.science/hal-02393664
https://hal.science/hal-02393664
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