Lv3
326 积分 2023-12-27 加入
Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing
16小时前
待确认
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
1个月前
已完结
Multiple osteonecroses and venous thrombosis: one case of patient with a novel mutation of protein C (N102S) and heterozygous for FV Leiden
3个月前
已完结
Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing
3个月前
已完结
Duplication of the short arm of chromosome 9. Analysis of five cases
3个月前
已完结
A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia
6个月前
已完结
Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease
6个月前
已完结
Prenatal Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome
6个月前
已完结
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis
6个月前
已完结
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis
6个月前
已完结
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