INVESTIGACIÓN EN ENFERMEDADES RARAS
Charles University in Prague
Praga, República ChecaPublications in collaboration with researchers from Charles University in Prague (2)
2024
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The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346
2010
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110