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40 积分 2024-12-23 加入
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]
12小时前
已完结
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81
11天前
已完结
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
11天前
已完结
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells
1个月前
已完结
The phenotype and genotype of PAX9 mutations causing tooth agenesis
1个月前
已完结
Comments on ‘Use of computational biology to compare the theoretical tertiary structures of the most common forms of RhCE and RhD’ and ‘Prediction of the antigenic regions in eight RhD variants identified by computational biology’
1个月前
已完结
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
1个月前
已完结
Aberrant acetylation caused by a CDYL splicing mutation contributes to thin mid‐piece related asthenoteratozoospermia and male infertility
1个月前
已完结
Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
1个月前
已完结
SMARCA4 (BRG1) Loss of Expression Is a Useful Marker for the Diagnosis of Ovarian Small Cell Carcinoma of the Hypercalcemic Type (Ovarian Rhabdoid Tumor)
1个月前
已完结
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