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Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

Following the reverse genetics strategy developed in the 1980s to pioneer the identification of disease genes, genome(s) sequencing has opened the era of genomics medicine. The human genome project has led to an innumerable series of applications of omics sciences on global health, from which rare d...

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Detalles Bibliográficos
Autores principales: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548672/
https://www.ncbi.nlm.nih.gov/pubmed/37794437
http://dx.doi.org/10.1186/s13023-023-02916-x