Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases
Article in Biology (January 2024)
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Fine-tuning Large Language Models for Rare Disease Concept Normalization
Preprint in bioRxiv (December 2023)
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
Article in American Journal of Medical Genetics Part A (July 2023)