Lv41
684 积分 2025-04-29 加入
Molecular investigation of 41 patients affected by coagulation factor XI deficiency
56分钟前
待确认
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
2个月前
已完结
[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family]
3个月前
已关闭
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
3个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
4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
4个月前
已完结
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent
4个月前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
4个月前
已完结
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
5个月前
已完结
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