Lv5
890 积分 2022-11-09 加入
Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia
11小时前
求助中
高度近视防控专家共识（2023）
13天前
已完结
[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review]
28天前
已完结
Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience
30天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
1个月前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
1个月前
已完结
Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic‐restrictive cardiomyopathy
1个月前
已完结
The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan
1个月前
已完结
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
1个月前
已完结
New insights intoCC2D2A-related Joubert syndrome
2个月前
已完结
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