Lv1
94 积分 2024-06-04 加入
Prenatal diagnosis of a familial Xp22.12 duplication in a pregnancy with a favorable fetal outcome
19天前
已完结
Duplication 18q21.31‐q22.2
1个月前
已完结
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
1个月前
已关闭
Severe growth retardation and distinctive phenotype in a child with 1q24 deletion syndrome
2个月前
已完结
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
2个月前
已完结
A novel PLS1 c.981+ 1G >A variant causes autosomal‐dominant hereditary hearing loss in a family
2个月前
已完结
产前诊断中地中海贫血--THAI型和HPFH—SEA型的基因检测
4个月前
已完结
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
5个月前
已完结
[Clinical practice guidelines for Fragile X syndrome]
5个月前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
6个月前
已完结
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