Lv5
1510 积分 2025-03-17 加入
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
5天前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
13天前
已完结
RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature
14天前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
19天前
已完结
Development of a targeted gene panel for the diagnosis of Gorlin syndrome
21天前
已完结
Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation
1个月前
已关闭
Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease
1个月前
已关闭
Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation
1个月前
已完结
Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study
2个月前
已完结
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