Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
French Institute of Health and Medical Research
París, FranciaPublicaciones en colaboración con investigadoras/es de French Institute of Health and Medical Research (4)
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
2019
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Research priorities for European paediatric emergency medicine
Archives of Disease in Childhood
2015
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Clinical Epigenetics, Vol. 7, Núm. 1
2014
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Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing
Diabetes Care, Vol. 37, Núm. 2, pp. 460-467