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Medrxiv : the Preprint Server for Health Sciences|June 6, 2022
Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER ProgramsJustin T Reese, Hannah Blau, Timothy Bergquist, et al.
Med (New York, N.Y.)|November 14, 2023
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human diseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.
Journal of Human Immunity|December 5, 2025
Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human DiseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.
Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
Ebiomedicine|December 23, 2022
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmesJustin T Reese, Hannah Blau, Elena Casiraghi, et al.
The New England Journal of Medicine|December 14, 2012
Cord-blood engraftment with ex vivo mesenchymal-cell cocultureMarcos de Lima, Ian McNiece, Simon N Robinson, et al.
NPJ Digital Medicine|May 24, 2019
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discoveryXingmin Aaron Zhang, Amy Yates, Nicole Vasilevsky, et al.
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