Lv4
460 积分 2025-04-29 加入
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy]
6天前
已完结
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy
28天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
1个月前
已完结
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities
1个月前
已完结
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
2个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
2个月前
已完结
A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family
2个月前
已关闭
A novel HNF4A mutation identified in a child with maturity onset diabetes of the young
2个月前
已完结
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