Lv4
694 积分 2025-04-29 加入
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
5个月前
已完结
[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family]
6个月前
已关闭
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
6个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
7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
7个月前
已完结
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent
7个月前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
7个月前
已完结
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
8个月前
已完结
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