Lv1
10 积分 2026-04-09 加入
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
29天前
已完结
Genetic characterization of DDX11 variants identified in a Chinese family with Warsaw breakage syndrome
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese
2个月前
已完结
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
2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
2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
3个月前
已完结
[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]
4个月前
已关闭
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life
4个月前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
4个月前
已完结
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