Lv1
10 积分 2026-04-09 加入
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
2天前
已完结
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese
1个月前
已完结
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
1个月前
已完结
A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease
1个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]
2个月前
已关闭
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life
2个月前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
2个月前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
3个月前
已完结
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
3个月前
已完结