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128 积分 2024-12-02 加入
Strain-dependent embryonic lethality in mice lacking the retinoblastoma-related p130 gene
5天前
已关闭
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
1个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
1个月前
已完结
Turner综合征患者临床管理
2个月前
已完结
Whole‐exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes
2个月前
已完结
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
2个月前
已完结
Heterozygous DLX5 nonsense mutation associated with isolated split‐hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
2个月前
已完结
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects
3个月前
已完结
[Clinical analysis of seven cases of primary hyperoxaluria type 1]
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
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