Lv2
170 积分 2023-09-25 加入
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
19天前
已完结
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
1个月前
已完结
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families
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
4个月前
已完结
De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy
5个月前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
5个月前
已完结
Elastin: mutational spectrum in supravalvular aortic stenosis
6个月前
已完结
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency
6个月前
已完结
Towards the recognition of oligogenic forms of type 2 diabetes
6个月前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
7个月前
已完结
皖公网安备34019202002308
