Lv1
10 积分 2023-11-30 加入
GABRA1‐Related Disorders: From Genetic to Functional Pathways
16小时前
待确认
LIS1-Related Isolated Lissencephaly
1天前
已完结
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
1天前
已完结
Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
1天前
已完结
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
1天前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
6天前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
7天前
已完结
Bone characteristics of autosomal dominant hypophosphatemic rickets patients
7天前
已完结
The characteristics of FBXO7 and its role in human diseases
8天前
已完结
Functional profiling of LDLR variants: Important evidence for variant classification
12天前
已完结
皖公网安备34019202002308
