A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
大规模突变搜索揭示了3M综合征的遗传异质性。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2008.200
Huber, Céline; Delezoide, Anee-Lise; Guimiot, Fabien; Baumann, Clarisse; Malan, Valérie; Le Merrer, Martine; Da Silva, Daniela Bezerra; Bonneau, Dominique; Chatelain, Pierre; Chu, Carol; Clark, Robin; Cox, Helen; Edery, Patrick; Edouard, Thomas; Fano, Virginia; Gibson, Kate; Gillessen-Kaesbach, Gabriele; Giovannucci-Uzielli, Maria-Luisa; Graul-Neumann, Luitgard Margarete; van Hagen, Johana-Maria; van Hest, Liselot; Horovitz, Dafne; Melki, Judith; Partsch, Carl-Joachim; Plauchu, Henry; Rajab, Anna; Rossi, Massimiliano; Sillence, David; Steichen-Gersdorf, Elisabeth; Stewart, Helen; Unger, Sheila; Zenker, Martin; Munnich, Arnold; Cormier-Daire, Valérie