IntellectualDisability相关论文
目的:对1个智力障碍家系进行致病基因鉴定及产前诊断。方法:家系3代17人，4例男性罹患智力障碍，2019年10月先证者之姐于孕8周时就诊于......
目的:探讨n MECP2重复综合征患者的临床症状及遗传学来源，为家系的遗传咨询及产前诊断提供依据。n 方法:对2018年1月至201......
目的:总结分析n USP9n X基因变异致限于女性型X-连锁综合征型智力障碍99型(MRXS99F，OMIM：300968)的临床及基因型特点，提高......
Performance of the Autism Spectrum Rating Scale and Social Responsiveness Scale in Identifying Autis
The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (SRS) have been widely used for screening au......
Recently,several hundred candidate genes have emerged from whole‐exome sequencing studies for various neurodevelopmenta......
目的:探讨磷脂酰肌醇蛋白聚糖3（glypican-3，n GPC3）基因变异致Simpson-Golabi- Behmel 综合征（Simpson-Golabi-Behmel syndrome，SG......
本文报道了1例新生儿期发病的Schaaf-Yang综合征（Schaaf-Yang syndrome，SYS）病例。患儿，女，第2胎第2产，出生时缺氧窒息，生后持续严重呼吸......
