Lv4
554 积分 2025-04-29 加入
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
20天前
已完结
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings
21天前
已完结
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent
23天前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
1个月前
已完结
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
1个月前
已完结
[Analysis of a consanguineous pedigree featuring hereditary coagulation factor Ⅴ deficiency]
3个月前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
3个月前
已完结
A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family
3个月前
已关闭
Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations
3个月前
已完结
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
3个月前
已完结
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