Lv41
630 积分 2025-07-31 加入
湖北地区原发性先天性青光眼患儿CYP1B1基因的新突变研究
1个月前
已完结
GRIN2B基因变异相关儿童神经系统发育异常临床特点和基因分析
1个月前
已完结
[Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver]
1个月前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
2个月前
已关闭
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
3个月前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
5个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
5个月前
已完结
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
5个月前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
5个月前
已完结
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
5个月前
已完结
Rewiring Oncogenic Transcriptional Complexes with Domain-ALTeration Chimeras (DALTACs) in Prostate Cancer
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