Lv79
4990 积分 2023-11-02 加入
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
4天前
已完结
Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with CFTR and ADGRG2 gene variants
4天前
已完结
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome
4天前
已完结
[Clinical manifestations and genetic variation analysis in six Chinese pedigrees affected with Stargardt disease]
5天前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
7天前
已完结
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
7天前
已完结
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
10天前
已完结
Albinismo ocular con mutación en GPR143: hallazgos en autofluorescencia de campo amplio y tomografía de coherencia óptica
13天前
已关闭
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
19天前
已完结
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