Lv11
30 积分 2024-12-08 加入
A novel NONO nonsense variant in a fetus with renal abnormalities
4小时前
待确认
Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis
10天前
已完结
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
23天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
1个月前
已完结
A new mechanism in blue cone monochromatism
2个月前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
2个月前
已完结
Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother
4个月前
已完结
PAX2 Gene Mutation in a Family with Isolated Renal Hypoplasia
4个月前
已完结
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
6个月前
已完结
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