Lv4
514 积分 2025-04-29 加入
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
1天前
待确认
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
3天前
已完结
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
4天前
已完结
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
14天前
已完结
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
18天前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
20天前
已完结
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
27天前
已完结
Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy
1个月前
已完结
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]
1个月前
已完结
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