Lv21
150 积分 2025-03-11 加入
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3小时前
已完结
Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings
4小时前
已关闭
Prenatal diagnosis and molecular characterization of a novel locus for Dandy–Walker malformation on chromosome 7p21.3
5天前
已完结
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population
8天前
已完结
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes
12天前
已完结
Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China
13天前
已完结
Deafness Gene Mutations in Newborns in the Foshan Area of South China With Bloodspot-Based Genetic Screening Tests
14天前
已完结
Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province
14天前
已完结
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families
17天前
已完结
A movable long-term implantable soft microfibre for dynamic bioelectronics
4个月前
已采纳
Learning the natural history of human disease with generative transformers
4个月前
已采纳
Molecular Aggregates of Wheat Starch–Protein Systems: Structural Disruption and Engineered Digestibility via Non‐Covalent Synergy
4个月前
已采纳
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
4个月前
已采纳
Enhanced Electron Transport in Fractal Conductive MOF Aerogels Boosting Microwave Absorption
4个月前
已采纳
Delocalized Frustrated Lewis Pairs in COF‐Catalyzed N‐Transfer for Urea Photosynthesis
4个月前
已采纳
Electrochemical Ammonia Oxidation Reaction on Nickel‐Based Non‐Noble Metal Electrocatalysts: From Mechanistic Understanding to Practical Applications
4个月前
已采纳
Simulated Digestion and Fecal Fermentation Characteristics of Pumpkin Polysaccharide and the Anti‐Inflammatory Activity of Its Fermentation Products
4个月前
已采纳
Case report: hepatitis in a child infected with SARS-CoV-2 presenting toll-like receptor 7 Gln11Leu single nucleotide polymorphism
4个月前
已采纳
Association Between Diabetes Knowledge and Self‐Management Among Portuguese Americans With Type 2 Diabetes
4个月前
已采纳
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