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664 积分 2025-04-29 加入
[Progressive cavitating leukoencephalopathy: four cases and literatures review]
8小时前
待确认
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases
3天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
5天前
已完结
Molecular investigation of 41 patients affected by coagulation factor XI deficiency
3个月前
已完结
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
6个月前
已完结
[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family]
7个月前
已关闭
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
7个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
8个月前
已完结
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings
8个月前
已完结
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