Lv43
570 积分 2025-02-27 加入
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1天前
待确认
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
20天前
已完结
LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
22天前
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
1个月前
已关闭
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
1个月前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
1个月前
已完结
Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening
1个月前
已完结
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients
1个月前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
2个月前
已完结
Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
2个月前
已完结
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