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30 积分 2025-08-23 加入
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort
2天前
已完结
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
4天前
已完结
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
5天前
已完结
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
10天前
已完结
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria
10天前
已完结
[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations]
10天前
已关闭
New insights into CC2D2A-related Joubert syndrome
10天前
已关闭
New insights into CC2D2A-related Joubert syndrome
10天前
已完结
New insights into CC2D2A-related Joubert syndrome
10天前
已关闭
Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study
17天前
已完结
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