Lv31
240 积分 2024-08-08 加入
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
7小时前
已完结
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort
12天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
13天前
已完结
Anlotinib plus TQB2450, a PD-L1 Antibody, in Patients with Advanced Alveolar Soft Part Sarcoma: A Single-Arm, Phase II Trial
28天前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
30天前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
30天前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
1个月前
已完结
Understanding the role of NOTCH2 mutation in centronuclear myopathy
1个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
1个月前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
1个月前
已完结