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60 积分 2023-01-14 加入
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
14小时前
求助中
Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C
7天前
已关闭
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
7天前
已完结
Evaluating the clinical utility and strategy of whole exome sequencing testing for fetuses with increased nuchal translucency
10天前
已完结
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach
14天前
已关闭
CLRN1 mutations cause nonsyndromic retinitis pigmentosa
16天前
已关闭
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
1个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
1个月前
已完结
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III
1个月前
已完结
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