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50 积分 2025-04-01 加入
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
27天前
已完结
A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
1个月前
已完结
A new compound heterozygous mutation in theCYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency
1个月前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
1个月前
已完结
[Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation]
4个月前
已完结
A multi-center analysis of individuals with a 47,XXY/46,XX karyotype
6个月前
已完结
[Klinefelter syndrome: Advances in research]
8个月前
已关闭
[Triploidy syndrome: a case report]
8个月前
已关闭
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