Lv2
130 积分 2026-04-13 加入
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families
1天前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
5天前
已完结
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency
5天前
已完结
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
6天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
7天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
8天前
已完结
Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria
14天前
已完结
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
21天前
已完结
The clinical and genetic landscape of early‐onset thrombophilia in Japan
27天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
27天前
已完结
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