Lv22
128 积分 2025-04-21 加入
Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation
3小时前
待确认
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1 , UNC13D , STX11 , STXBP2 , SH2D1A , and XIAP
22小时前
已完结
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
13天前
已完结
Autism spectrum disorder
27天前
已完结
In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis
1个月前
已完结
Understanding the genetics of human infertility
1个月前
已完结
Lipomatoses
1个月前
已完结
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou
1个月前
已完结
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant
1个月前
已完结
Straight‐chain acyl‐CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic‐type regression and a selective pattern of leukodystrophy
2个月前
已完结
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