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40 积分 2024-09-24 加入
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
12小时前
已完结
[Phenotypes and ATP7B gene variants in 316 children with Wilson disease]
1天前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
4天前
已完结
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
5天前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
6天前
已完结
Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency
6天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
13天前
已完结
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
29天前
已完结
Survival analysis of clinical and genetic factors in an amyotrophic lateral sclerosis cohort from China
1个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1个月前
已完结
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