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68 积分 2024-03-11 加入
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
18小时前
已完结
Cutaneous histiocytoses in children
17天前
已完结
Histiocitosis
17天前
已关闭
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
24天前
已完结
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
2个月前
已完结
Sex differences in early language delay and in developmental language disorder
2个月前
已完结
Overview of Progressive Familial Intrahepatic Cholestasis
2个月前
已完结
Successful treatment for diffuse large B-cell lymphoma in a Japanese adolescent with PIK3CD germ-line mutation: stem cell transplantation after reduced-intensity conditioning
2个月前
已完结
[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases]
4个月前
已完结
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
4个月前
已完结
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