Lv33
230 积分 2025-03-11 加入
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study
1天前
求助中
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP: Figure 1
2天前
已关闭
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
2天前
已完结
182 Inherited POMP-Related Autoinflammation and Immune Dysregulation Disease Treated with Baricitinib Prior to Hematopoietic Stem Cell Transplant
8天前
已关闭
456PDefining the CIAO1-related disease spectrum: clinical and molecular insights into a novel defect in cytoplasmic iron-sulfur cluster assembly
28天前
已关闭
456PDefining the CIAO1-related disease spectrum: clinical and molecular insights into a novel defect in cytoplasmic iron-sulfur cluster assembly
1个月前
已关闭
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
1个月前
已完结
HYAL2 Deficiency
1个月前
已关闭
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
1个月前
已完结
Uveal Melanoma and the Lynch Syndrome Tumor Spectrum
1个月前
已完结
A movable long-term implantable soft microfibre for dynamic bioelectronics
2个月前
已采纳
Learning the natural history of human disease with generative transformers
2个月前
已采纳
Molecular Aggregates of Wheat Starch–Protein Systems: Structural Disruption and Engineered Digestibility via Non‐Covalent Synergy
2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
2个月前
已采纳
Enhanced Electron Transport in Fractal Conductive MOF Aerogels Boosting Microwave Absorption
2个月前
已采纳
Delocalized Frustrated Lewis Pairs in COF‐Catalyzed N‐Transfer for Urea Photosynthesis
2个月前
已采纳
Electrochemical Ammonia Oxidation Reaction on Nickel‐Based Non‐Noble Metal Electrocatalysts: From Mechanistic Understanding to Practical Applications
2个月前
已采纳
Simulated Digestion and Fecal Fermentation Characteristics of Pumpkin Polysaccharide and the Anti‐Inflammatory Activity of Its Fermentation Products
2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
2个月前
已采纳
Association Between Diabetes Knowledge and Self‐Management Among Portuguese Americans With Type 2 Diabetes
2个月前
已采纳
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