检索范围:
排序: 展示方式:
Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
《医学前沿(英文)》 2021年 第15卷 第6期 页码 877-886 doi: 10.1007/s11684-021-0863-4
关键词: penetrance PRRT2 paroxysmal kinesigenic dyskinesia infantile convulsions
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice
《医学前沿(英文)》 页码 957-971 doi: 10.1007/s11684-023-0988-8
关键词: DNAH10 mice motile cilia mutation primary ciliary dyskinesia
Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients
《医学前沿(英文)》 doi: 10.1007/s11684-023-0997-7
Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia
《医学前沿(英文)》 2021年 第15卷 第6期 页码 933-937 doi: 10.1007/s11684-021-0860-7
关键词: primary ciliary dyskinesia neurofibromatosis bronchiectasis transmission electron microscopy genetic sequencing
标题 作者 时间 类型 操作
Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
期刊论文