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50 积分 2024-09-24 加入
Obesity-Associated GNAS Mutations and the Melanocortin Pathway
15天前
已完结
PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon
19天前
已完结
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
21天前
已完结
[Phenotypes and ATP7B gene variants in 316 children with Wilson disease]
22天前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
25天前
已完结
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
26天前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
27天前
已完结
Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency
27天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
1个月前
已完结
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