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Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

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Publicaciones

Effect of tissue fixation on the optical properties of structural components assessed by non-linear microscopy imaging

Autores: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Publicado en: Optica Publishing Group, Edición Vol. 14, Edición 8, 2023, Página(s) 3988-4002, ISSN 2156-7085
Editor: The Optical Society
DOI: 10.1364/boe.488453

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

Autores: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Publicado en: Frontiers in Public Health, 2023, Página(s) 11, ISSN 2296-2565
Editor: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

Genomic newborn screening: Are we entering a new era of screening?

Autores: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Publicado en: Journal of Inherited Metabolic Disease, 2023, Página(s) 759-1003, ISSN 1573-2665
Editor: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Autores: Avid Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
Publicado en: Int. J. Neonatal Screening, 2022
Editor: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

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