Lv31
356 积分 2021-09-26 加入
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
3小时前
待确认
CCDC22 variants caused X-linked focal epilepsy and focal cortical dysplasia
11天前
已完结
The rate of secondary genomic findings in the Saudi population
14天前
已完结
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis
19天前
已完结
Identification of a novel MKS locus defined byTMEM107mutation
2个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
已关闭
An aggressive form of polyarticular arthritis in a man with CD154 mutation (X‐linked hyper‐IgM syndrome)
2个月前
已关闭
Point mutations in Czech DMD/BMD patients and their phenotypic outcome
4个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
4个月前
已完结
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
4个月前
已完结
皖公网安备34019202002308
