Lv11
52 积分 2024-10-25 加入
Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder
3小时前
待确认
Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review
17天前
已完结
SDHC c.397C>T-related pheochromocytomas and paragangliomas: insights from an international study
1个月前
已关闭
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
1个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
2个月前
已完结
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]
2个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
3个月前
已完结
Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report
4个月前
已完结
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease
4个月前
已完结
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