Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
下一代表型分析技术在歌舞伎综合征诊断及表型-基因型相关性研究中的应用
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-52691-3
Hennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stéphanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valérie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlène; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Geneviève, David; Khonsari, Roman H; Garcelon, Nicolas