Lv11
4 积分 2023-04-17 加入
[Genetic testing and prenatal diagnosis of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy]
3小时前
待确认
[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency]
7天前
已完结
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients
7天前
已完结
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
14天前
已完结
Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
15天前
已完结
[Clinical analysis of 21 cases with short fetal femur in the third trimester]
15天前
已完结
Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism
1个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
2个月前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
3个月前
已完结
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology
3个月前
已完结
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