Lv2
150 积分 2025-03-11 加入
Mitochondrial trifunctional protein deficiency in a lethal neonate
3天前
已完结
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature
13天前
已完结
New insights into CC2D2A-related Joubert syndrome
19天前
已关闭
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy
20天前
已完结
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation –A single centre experience of 56 cases
20天前
已完结
Somatic Profiling Prospectively Guides Germline Genetic Testing in Patients with Mutations in High-Risk Cancer Predisposition Genes
20天前
已关闭
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
21天前
已完结
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
1个月前
已关闭
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
1个月前
已完结
Metachromatic Leukodystrophy and Its Effects on the Gallbladder: A Case Report
1个月前
已完结
A movable long-term implantable soft microfibre for dynamic bioelectronics
6个月前
已采纳
Learning the natural history of human disease with generative transformers
6个月前
已采纳
Molecular Aggregates of Wheat Starch–Protein Systems: Structural Disruption and Engineered Digestibility via Non‐Covalent Synergy
6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
6个月前
已采纳
Enhanced Electron Transport in Fractal Conductive MOF Aerogels Boosting Microwave Absorption
6个月前
已采纳
Delocalized Frustrated Lewis Pairs in COF‐Catalyzed N‐Transfer for Urea Photosynthesis
6个月前
已采纳
Electrochemical Ammonia Oxidation Reaction on Nickel‐Based Non‐Noble Metal Electrocatalysts: From Mechanistic Understanding to Practical Applications
6个月前
已采纳
Simulated Digestion and Fecal Fermentation Characteristics of Pumpkin Polysaccharide and the Anti‐Inflammatory Activity of Its Fermentation Products
6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
6个月前
已采纳
Association Between Diabetes Knowledge and Self‐Management Among Portuguese Americans With Type 2 Diabetes
6个月前
已采纳
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