Lv13
38 积分 2024-06-04 加入
[Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome]
3小时前
待确认
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
7天前
已完结
De novo partial duplications 1p: Report of two new cases and review
11天前
已完结
Non-Syndromic Sensorineural Hearing Loss in Children
18天前
已关闭
Acrofacial dysostosis syndromes: A relevant prenatal dilemma. A case report and brief literature review
21天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
25天前
已完结
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
1个月前
已完结
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
1个月前
已完结
A SOX3 duplication and lumbosacral spina bifida in three generations
1个月前
已完结
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