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

Rezultaty

Viable implementation of the metadata repository incl. report on data access right management

Publikacje

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

Autorzy: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Opublikowane w: Optica Publishing Group, Numer Vol. 14, Numer 8, 2023, Strona(/y) 3988-4002, ISSN 2156-7085
Wydawca: The Optical Society
DOI: 10.1364/boe.488453

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Autorzy: 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
Opublikowane w: Int. J. Neonatal Screening, 2022
Wydawca: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Rezultaty

Publikacje

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