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Biopreservation and Biobanking|April 14, 2020
Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical BiorepositoriesDominik Lermen, Frederik Gwinner, Martina Bartel-Steinbach, et al.American Journal of Medical Genetics. Part A|December 21, 2020
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defectsBeatriz Martinez-Delgado, Estrella Lopez-Martin, Julián Lara-Herguedas, et al.JAMIA Open|January 11, 2021
The case for open science: rare diseasesYaffa R Rubinstein, Peter N Robinson, William A Gahl, et al.International Journal of Environmental Research and Public Health|August 8, 2018
Recommendations for Improving the Quality of Rare Disease RegistriesYllka Kodra, Jérôme Weinbach, Manuel Posada-de-la-Paz, et al.European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.Frontiers in Public Health|October 12, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSavino Sciascia, Dario Roccatello, Marco Salvatore, et al.Frontiers in Public Health|March 20, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalDomenica Taruscio, Marco Salvatore, Aimè Lumaka, et al.Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.Journal of Autism and Developmental Disorders|January 27, 2021
Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU StudyMaria Luisa Scattoni, Martina Micai, Antonio Ciaramella, et al.Frontiers in Psychiatry|June 14, 2021
Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU ProjectMartina Micai, Antonio Ciaramella, Tommaso Salvitti, et al.Pageof 14