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60 积分 2025-10-31 加入
[Analysis of SATB2 gene mutation in a child with Glass syndrome]
23天前
已完结
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
2个月前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
3个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
5个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
5个月前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
6个月前
已完结
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