Lv31
390 积分 2025-07-31 加入
[Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver]
6小时前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
1个月前
已关闭
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
1个月前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
3个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
4个月前
已完结
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
4个月前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
4个月前
已完结
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
4个月前
已完结
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
4个月前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
4个月前
已完结
Rewiring Oncogenic Transcriptional Complexes with Domain-ALTeration Chimeras (DALTACs) in Prostate Cancer
皖公网安备34019202002308
