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470 积分 2025-03-17 加入
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis
1小时前
待确认
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development
3天前
已完结
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
4天前
已完结
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid
5天前
已完结
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid
5天前
已关闭
Phenotype-genotype Correlation in CD36 Deficiency Types I and II
17天前
已完结
Phenotype-genotype correlation in CD36 deficiency types I and II
17天前
已关闭
Medulloblastoma associated with Lynch syndrome: a case report of germline MLH1 variant and tumor molecular characterization
27天前
已完结
A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
27天前
已完结
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