Lv5
950 积分 2023-08-21 加入
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
7天前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
7天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
12天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
12天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
12天前
已完结
BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
13天前
已完结
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
13天前
已完结
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development
14天前
已完结
TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor
16天前
已完结
Characterization of duplication breakpoints in the factor VIII gene
27天前
已关闭
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