DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review
男性DDX3X相关神经发育障碍——一项包含19名男性的新队列研究及文献综述
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01832-x
Kennis, Milou G P; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W; Boelen, Caroline; Marcelis, Carlo L M; de Vries, Bert B A; Elting, Mariet W; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S; Donnelly, Deirdre E; Rogers, R Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cécile; Sallevelt, Suzanne C E H; Maas, Saskia M; Smits, Jeroen J; van Haelst, Mieke M; Levy, Rebecca J; Stewart, Helen; Loeys, Bart L; Pfundt, Rolph; Kleefstra, Tjitske; Snijders Blok, Lot