Lv54
890 积分 2025-02-27 加入
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases
2天前
已完结
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
1个月前
已完结
[Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency]
1个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1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
2个月前
已完结
LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
2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
2个月前
已关闭
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
2个月前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
3个月前
已完结
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening
3个月前
已完结
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