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28 积分 2025-06-24 加入
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study
1个月前
已完结
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
1个月前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
2个月前
已完结
Fibroblast bioelectric signaling drives hair growth
2个月前
已完结
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
3个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
3个月前
已完结
PCDH19-clustering epilepsy, pathophysiology and clinical significance
4个月前
已完结
Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders
7个月前
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