Lv31
238 积分 2025-01-19 加入
Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature
2小时前
求助中
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
5天前
已完结
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family
1个月前
已关闭
Statistical features of human exons and their flanking regions
1个月前
已完结
A Familial Case of 1q31.2q32.2 Deletion with No Phenotypic Presentation
1个月前
已关闭
[Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening]
2个月前
已完结
Prenatal diagnosis of a familial 4q35.1q35.2 microdeletion associated with no apparently phenotypic abnormality in the family carrier members
2个月前
已完结
Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication
3个月前
已关闭
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
3个月前
已完结
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments
3个月前
已完结
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