Lv2
148 积分 2024-11-22 加入
Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome
1个月前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1个月前
已完结
Blended collagenopathy and optic atrophy: a novel phenotype
1个月前
已关闭
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
1个月前
已完结
Pathogenic Germline Mutational Landscape in Patients With Renal Cell Carcinoma and Associated Clinicopathologic Features
1个月前
已关闭
A detailed understanding of the COL10A1 and SOX9 genes interaction based on potentially damaging mutations in gastric cancer using computational techniques
1个月前
已完结
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
1个月前
已完结
Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome
1个月前
已完结
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
1个月前
已完结
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
2个月前
已完结