Lv52
1170 积分 2025-02-27 加入
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
6天前
已完结
Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma
22天前
已完结
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases
1个月前
已完结
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
2个月前
已完结
[Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency]
2个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
3个月前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
3个月前
已完结
LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
3个月前
已完结
Healthy and Age-friendly Cities in the People’s Republic of China: Proposal for Health Impact Assessment and Healthy and Age-friendly City Action and Management Planning
4个月前
已关闭
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
4个月前
已完结
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