Lv48
429 积分 2025-05-20 加入
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients
10天前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
12天前
已关闭
家族性肥厚型心肌病致病突变检测及基因型表型关联分析
16天前
已关闭
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
26天前
已完结
Systematically analyzing rare variants of autosomal-dominant genes for sporadic Parkinson's disease in a Chinese cohort
1个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
1个月前
已完结
Large-scale TUBB4A mutational screening in isolated dystonia and controls
2个月前
已完结
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
2个月前
已完结
Multiple purple-coloured plaques in a paediatric Asian patient with skin of colour
2个月前
已关闭
Efficacy of ruxolitinib for HAVCR2 mutation‐associated hemophagocytic lymphohistiocytosis and panniculitis manifestations in children
2个月前
已完结
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