Lv23
164 积分 2024-11-22 加入
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
4小时前
已完结
Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome
5小时前
已完结
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
1天前
已完结
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
2天前
已完结
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
2天前
已完结
Dominant dystrophic epidermolysis bullosa across three distinct skin types
5天前
已完结
Clinical and genetic features of Classic Galactosemia in the south of Brazil
20天前
已关闭
Olaparib in Patients With Solid Tumors With ATM Alterations: Results From the Targeted Agent and Profiling Utilization Registry (TAPUR) Study
22天前
已关闭
Functional assessment of all ATM SNVs using prime editing and deep learning
22天前
已完结
Functional assessment of all ATM SNVs using prime editing and deep learning
22天前
已关闭
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